Variant ID: 4-55599321-A-T

NM_000222.2(KIT):c.2447A>T;(p.D816V)

This variant was identified in 917 publications

View GRCh38 version.




Publications:


Cell Cluster Sorting in Automated Differentiation of Patient-specific Induced Pluripotent Stem Cells Towards Blood Cells.

Frontiers In Bioengineering And Biotechnology
Ma, Zhiyao Z; Toledo, Marcelo Augusto Szymanskide MAS; Wanek, Paul P; Elsafi Mabrouk, Mohamed H MH; Smet, Francis F; Pulak, Rock R; Pieske, Simon S; Piotrowski, Tobias T; Herfs, Werner W; Brecher, Christian C; Schmitt, Robert H RH; Wagner, Wolfgang W; Zenke, Martin M
Publication Date: 2022

Variant appearance in text: KIT: D816V
PubMed Link: 35662848
Variant Present in the following documents:
  • Main text
  • fbioe-10-755983.pdf
View BVdb publication page



Acute Mast Cell Leukemia Preceded by Malignant Mediastinal Germ Cell Tumor: A Case Report and Literature Review.

Cancer Management And Research
Wang, Huafang H; Chen, Yuan Y; Lin, Huijun H; Ni, Wanmao W; Zhang, Qiaolei Q; Lan, Jianping J; Jin, Lai L
Publication Date: 2022

Variant appearance in text: KIT: D816V
PubMed Link: 35637940
Variant Present in the following documents:
  • Main text
  • cmar-14-1783.pdf
View BVdb publication page



Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers
González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC
Publication Date: 2022-05-18

Variant appearance in text: KIT: D816V
PubMed Link: 35626091
Variant Present in the following documents:
  • Main text
  • cancers-14-02487.pdf
View BVdb publication page



Biological Effects of Animal Venoms on the Human Immune System.

Toxins
Avalo, Zharick Z; Barrera, María Claudia MC; Agudelo-Delgado, Manuela M; Tobón, Gabriel J GJ; Cañas, Carlos A CA
Publication Date: 2022-05-16

Variant appearance in text: KIT: D816V
PubMed Link: 35622591
Variant Present in the following documents:
  • Main text
  • toxins-14-00344.pdf
View BVdb publication page



Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-05-23

Variant appearance in text: KIT: 2447A>T; Asp816Val
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



Treatment of Indolent and Advanced Systemic Mastocytosis.

Mediterranean Journal Of Hematology And Infectious Diseases
Buonomo, Alessandro A; Nucera, Eleonora E; Criscuolo, Marianna M
Publication Date: 2022

Variant appearance in text: KIT: D816V
PubMed Link: 35615325
Variant Present in the following documents:
  • Main text
  • mjhid-14-1-e2022040.pdf
View BVdb publication page



Pyronaridine Protects against SARS-CoV-2 Infection in Mouse.

Acs Infectious Diseases
Puhl, Ana C AC; Gomes, Giovanni F GF; Damasceno, Samara S; Godoy, Andre S AS; Noske, Gabriela D GD; Nakamura, Aline M AM; Gawriljuk, Victor O VO; Fernandes, Rafaela S RS; Monakhova, Natalia N; Riabova, Olga O; Lane, Thomas R TR; Makarov, Vadim V; Veras, Flavio P FP; Batah, Sabrina S SS; Fabro, Alexandre T AT; Oliva, Glaucius G; Cunha, Fernando Q FQ; Alves-Filho, José C JC; Cunha, Thiago M TM; Ekins, Sean S
Publication Date: 2022-05-24

Variant appearance in text: KIT: D816V
PubMed Link: 35609344
Variant Present in the following documents:
  • id2c00091_si_001.pdf
View BVdb publication page



Dihydroarteannuin Ameliorates Collagen-Induced Arthritis Via Inhibiting B Cell Activation by Activating the FcγRIIb/Lyn/SHP-1 Pathway.

Frontiers In Pharmacology
Hu, Congqi C; Wu, Danbin D; Yu, Jiahui J; Xu, Jia J; Liu, Lijuan L; Zhang, Mingying M; Jiao, Wei W; Chen, Guangxing G
Publication Date: 2022

Variant appearance in text: C-Kit: D816V
PubMed Link: 35592412
Variant Present in the following documents:
  • fphar-13-883835.pdf
View BVdb publication page



Targeting the translational machinery in gastrointestinal stromal tumors (GIST): a new therapeutic vulnerability.

Scientific Reports
Lee, Donna M DM; Sun, Angela A; Patil, Sneha S SS; Liu, Lijun L; Rao, Aparna V AV; Trent, Parker T PT; Ali, Areej A AA; Liu, Catherine C; Rausch, Jessica L JL; Presutti, Laura D LD; Kaczorowski, Adam A; Schneider, Felix F; Amankulor, Nduka M NM; Shuda, Masahiro M; Duensing, Anette A
Publication Date: 2022-05-18

Variant appearance in text: KIT: D816V
PubMed Link: 35585158
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_12000.pdf
View BVdb publication page



Mastocytosis: Fertility and Pregnancy Management in a Rare Disease.

Frontiers In Oncology
Ferrari, Jacqueline J; Benvenuti, Pietro P; Bono, Elisa E; Fiorelli, Nicolas N; Elena, Chiara C
Publication Date: 2022

Variant appearance in text: KIT: D816V
PubMed Link: 35574357
Variant Present in the following documents:
  • fonc-12-874178.pdf
View BVdb publication page



A Case of Isolated Myeloid Sarcoma Associated With Germline EGFR T790M Variant: The Importance of Recognizing Potential Germline Variants on Somatic Tumor Sequencing Panels.

Journal Of Hematology
Walker, Margaret M; Folstad, Matthew M; Smith-Simmer, Kelcy K; Reinig, Erica E; Nadiminti, Kalyan K; Lovrien, Lauren L; Churpek, Jane E JE; Banaszak, Lauren G LG
Publication Date: 2022-04

Variant appearance in text: KIT: D816V
PubMed Link: 35573754
Variant Present in the following documents:
  • jh-11-071.pdf
View BVdb publication page



Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.

International Journal Of Molecular Sciences
Katagiri, Seiichiro S; Chi, SungGi S; Minami, Yosuke Y; Fukushima, Kentaro K; Shibayama, Hirohiko H; Hosono, Naoko N; Yamauchi, Takahiro T; Morishita, Takanobu T; Kondo, Takeshi T; Yanada, Masamitsu M; Yamamoto, Kazuhito K; Kuroda, Junya J; Usuki, Kensuke K; Akahane, Daigo D; Gotoh, Akihiko A
Publication Date: 2022-04-23

Variant appearance in text: KIT: D816V
PubMed Link: 35563085
Variant Present in the following documents:
  • ijms-23-04694.pdf
View BVdb publication page



CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.

Science Advances
Li, Quan Q; Ren, Zilin Z; Cao, Kajia K; Li, Marilyn M MM; Wang, Kai K; Zhou, Yunyun Y
Publication Date: 2022-05-06

Variant appearance in text: KIT: D816V
PubMed Link: 35544644
Variant Present in the following documents:
  • sciadv.abj1624.pdf
View BVdb publication page



Design of a Potent, Selective, and Brain-Penetrant Inhibitor of Wnt-Deactivating Enzyme Notum by Optimization of a Crystallographic Fragment Hit.

Journal Of Medicinal Chemistry
Willis, Nicky J NJ; Mahy, William W; Sipthorp, James J; Zhao, Yuguang Y; Woodward, Hannah L HL; Atkinson, Benjamin N BN; Bayle, Elliott D ED; Svensson, Fredrik F; Frew, Sarah S; Jeganathan, Fiona F; Monaghan, Amy A; Benvegnù, Stefano S; Jolly, Sarah S; Vecchia, Luca L; Ruza, Reinis R RR; Kjær, Svend S; Howell, Steven S; Snijders, Ambrosius P AP; Bictash, Magda M; Salinas, Patricia C PC; Vincent, Jean-Paul JP; Jones, E Yvonne EY; Whiting, Paul P; Fish, Paul V PV
Publication Date: 2022-05-10

Variant appearance in text: KIT: D816V
PubMed Link: 35536179
Variant Present in the following documents:
  • jm2c00162_si_001.pdf
View BVdb publication page



The dual role of autophagy in acute myeloid leukemia.

Journal Of Hematology & Oncology
Seo, Wonhyoung W; Silwal, Prashanta P; Song, Ik-Chan IC; Jo, Eun-Kyeong EK
Publication Date: 2022-05-07

Variant appearance in text: KIT: D816V
PubMed Link: 35526025
Variant Present in the following documents:
  • 13045_2022_Article_1262.pdf
View BVdb publication page



Rare evolution of CSF3R-mutated chronic neutrophilic leukemia to t(4;12)(q12;p13) acute myeloid leukemia with SETBP1 mutation.

Leukemia Research Reports
Hirao, Maki M; Watanabe, Kentaro K; Tsukada, Yuiko Y; Kunieda, Hisako H; Osada, Makoto M; Yamazaki, Kohei K; Denda, Ryunosuke R; Okamoto, Shinichiro S; Kikuchi, Takahide T
Publication Date: 2022

Variant appearance in text: KIT: D816V
PubMed Link: 35497674
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics
Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R
Publication Date: 2022-04-25

Variant appearance in text: KIT: 2447A>T
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM3_ESM.xlsx
View BVdb publication page



Mast Cells: When the Best Defense Is an Attack?

International Journal Of Molecular Sciences
Martin, Margarita M
Publication Date: 2022-03-25

Variant appearance in text: KIT: D816V
PubMed Link: 35408929
Variant Present in the following documents:
  • ijms-23-03570.pdf
View BVdb publication page



Functional and Phenotypic Characterization of Siglec-6 on Human Mast Cells.

Cells
Robida, Piper A PA; Rische, Clayton H CH; Morgenstern, Netali Ben-Baruch NB; Janarthanam, Rethavathi R; Cao, Yun Y; Krier-Burris, Rebecca A RA; Korver, Wouter W; Xu, Alan A; Luu, Thuy T; Schanin, Julia J; Leung, John J; Rothenberg, Marc E ME; Wechsler, Joshua B JB; Youngblood, Bradford A BA; Bochner, Bruce S BS; O'Sullivan, Jeremy A JA
Publication Date: 2022-03-28

Variant appearance in text: KIT: D816V
PubMed Link: 35406705
Variant Present in the following documents:
  • cells-11-01138.pdf
View BVdb publication page



TET2 regulates immune tolerance in chronically activated mast cells.

Jci Insight
Rigo, Riccardo R; Chelbi, Rabie R; Agopian, Julie J; Letard, Sebastien S; Griffon, Aurélien A; Ghamlouch, Hussein H; Vernerey, Julien J; Ladopoulos, Vasileios V; Voisset, Edwige E; De Sepulveda, Paulo P; Guittard, Geoffrey G; Nunès, Jacques A JA; Bidaut, Ghislain G; Göttgens, Berthold B; Weber, Michael M; Bernard, Olivier A OA; Dubreuil, Patrice P; Soucie, Erinn E
Publication Date: 2022-04-08

Variant appearance in text: KIT: D816V
PubMed Link: 35393954
Variant Present in the following documents:
  • jciinsight-7-154191.pdf
View BVdb publication page



KLF5 inhibition overcomes oxaliplatin resistance in patient-derived colorectal cancer organoids by restoring apoptotic response.

Cell Death & Disease
Shen, Xiaohui X; Zhang, Yuchen Y; Xu, Zhuoqing Z; Gao, Han H; Feng, Wenqing W; Li, Wenchang W; Miao, Yiming Y; Xu, Zifeng Z; Zong, Yaping Y; Zhao, Jingkun J; Lu, Aiguo A
Publication Date: 2022-04-05

Variant appearance in text: KIT: D816V
PubMed Link: 35379798
Variant Present in the following documents:
  • 41419_2022_4773_MOESM9_ESM.xlsx
View BVdb publication page



Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Nature Communications
Liu, Ting T; Rao, Jianan J; Hu, Wenting W; Cui, Bowen B; Cai, Jiaoyang J; Liu, Yuhan Y; Sun, Huiying H; Chen, Xiaoxiao X; Tang, Yanjing Y; Chen, Jing J; Wang, Xiang X; Wang, Han H; Qian, Wubin W; Mao, Binchen B; Guo, Sheng S; Wang, Ronghua R; Liu, Yu Y; Shen, Shuhong S
Publication Date: 2022-03-28

Variant appearance in text: KIT: D816V
PubMed Link: 35347147
Variant Present in the following documents:
  • 41467_2022_29336_MOESM8_ESM.xlsx
  • 41467_2022_Article_29336.pdf
View BVdb publication page



Mastocytosis presenting with mast cell-mediator release-associated symptoms elicited by cyclo oxygenase inhibitors: prevalence, clinical, and laboratory features.

Clinical And Translational Allergy
Rama, Tiago Azenha TA; Morgado, José Mário JM; Henriques, Ana A; Escribano, Luis L; Alvarez-Twose, Iván I; Sanchez-Muñoz, Laura L; Moreira, André A; Romão, José J; Órfão, Alberto A; Matito, Almudena A
Publication Date: 2022-03

Variant appearance in text: KIT: D816V
PubMed Link: 35344302
Variant Present in the following documents:
  • CLT2-12-e12132.pdf
View BVdb publication page



SWATH-MS identification of CXCL7, LBP, TGFβ1 and PDGFRβ as novel biomarkers in human systemic mastocytosis.

Scientific Reports
Graham, R L J RLJ; McMullen, A A AA; Moore, G G; Dempsey-Hibbert, N C NC; Myers, B B; Graham, C C
Publication Date: 2022-03-24

Variant appearance in text: KIT: D816V
PubMed Link: 35332176
Variant Present in the following documents:
  • 41598_2022_Article_8345.pdf
View BVdb publication page



Systemic Mastocytosis Treatment with Midostaurin: [18F]FDG PET/CT as a Potential Monitoring Tool for Therapy Outcome.

Diagnostics (Basel, Switzerland)
Burgard, Caroline C; Rosar, Florian F; Khreish, Fadi F; Ezziddin, Samer S
Publication Date: 2022-03-10

Variant appearance in text: KIT: D816V
PubMed Link: 35328232
Variant Present in the following documents:
  • diagnostics-12-00680.pdf
View BVdb publication page



Proceedings of the Canadian Society of Allergy and Clinical Immunology Annual Scientific Meeting 2021.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology
Publication Date: 2022-03-22

Variant appearance in text: CD117: D816V
PubMed Link: 35313976
Variant Present in the following documents:
  • 13223_2022_Article_647.pdf
View BVdb publication page



Overexpression of FcεRI on Bone Marrow Mast Cells, but Not MRGPRX2, in Clonal Mast Cell Disorders With Wasp Venom Anaphylaxis.

Frontiers In Immunology
Elst, Jessy J; De Puysseleyr, Leander P LP; Ebo, Didier G DG; Faber, Margaretha A MA; Van Gasse, Athina L AL; van der Poorten, Marie-Line M MM; Decuyper, Ine I II; Bridts, Chris H CH; Mertens, Christel C; Van Houdt, Michel M; Hagendorens, Margo M MM; De Clerck, Luc S LS; Verlinden, Anke A; Vermeulen, Katrien K; Maes, Marie-Berthe MB; Berneman, Zwi N ZN; Valent, Peter P; Sabato, Vito V
Publication Date: 2022

Variant appearance in text: KIT: D816V
PubMed Link: 35281031
Variant Present in the following documents:
  • fimmu-13-835618.pdf
View BVdb publication page



Anaplastic thyroid cancer: genome-based search for new targeted therapy options.

Endocrine Connections
Hescheler, Daniel Alexander DA; Hartmann, Milan Janis Michael MJM; Riemann, Burkhard B; Michel, Maximilian M; Bruns, Christiane Josephine CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2022-03-01

Variant appearance in text: KIT: D816V
PubMed Link: 35275096
Variant Present in the following documents:
  • supplementary_table_1.xlsx
View BVdb publication page



The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.

The Journal Of Pathology. Clinical Research
Tessier-Cloutier, Basile B; Grewal, Jasleen K JK; Jones, Martin R MR; Pleasance, Erin E; Shen, Yaoqing Y; Cai, Ellen E; Dunham, Chris C; Hoang, Lynn L; Horst, Basil B; Huntsman, David G DG; Ionescu, Diana D; Karnezis, Anthony N AN; Lee, Anna F AF; Lee, Cheng Han CH; Lee, Tae Hoon TH; Twa, David Dw DD; Mungall, Andrew J AJ; Mungall, Karen K; Naso, Julia R JR; Ng, Tony T; Schaeffer, David F DF; Sheffield, Brandon S BS; Skinnider, Brian B; Smith, Tyler T; Williamson, Laura L; Zhong, Ellia E; Regier, Dean A DA; Laskin, Janessa J; Marra, Marco A MA; Gilks, C Blake CB; Jones, Steven Jm SJ; Yip, Stephen S
Publication Date: 2022-03-08

Variant appearance in text: rs121913507
PubMed Link: 35257510
Variant Present in the following documents:
  • CJP2-8-395-s002.xlsx
View BVdb publication page



A Critical Function for the Transcription Factors GLI1 and GLI2 in the Proliferation and Survival of Human Mast Cells.

Frontiers In Immunology
Falduto, Guido Hernan GH; Pfeiffer, Annika A; Zhang, Qunshu Q; Yin, Yuzhi Y; Metcalfe, Dean Darrel DD; Olivera, Ana A
Publication Date: 2022

Variant appearance in text: KIT: D816V
PubMed Link: 35251038
Variant Present in the following documents:
  • fimmu-13-841045.pdf
View BVdb publication page



Stem cell architecture drives myelodysplastic syndrome progression and predicts response to venetoclax-based therapy.

Nature Medicine
Ganan-Gomez, Irene I; Yang, Hui H; Ma, Feiyang F; Montalban-Bravo, Guillermo G; Thongon, Natthakan N; Marchica, Valentina V; Richard-Carpentier, Guillaume G; Chien, Kelly K; Manyam, Ganiraju G; Wang, Feng F; Alfonso, Ana A; Chen, Shuaitong S; Class, Caleb C; Kanagal-Shamanna, Rashmi R; Ingram, Justin P JP; Ogoti, Yamini Y; Rose, Ashley A; Loghavi, Sanam S; Lockyer, Pamela P; Cambo, Benedetta B; Muftuoglu, Muharrem M; Schneider, Sarah S; Adema, Vera V; McLellan, Michael M; Garza, John J; Marchesini, Matteo M; Giuliani, Nicola N; Pellegrini, Matteo M; Wang, Jing J; Walker, Jason J; Li, Ziyi Z; Takahashi, Koichi K; Leverson, Joel D JD; Bueso-Ramos, Carlos C; Andreeff, Michael M; Clise-Dwyer, Karen K; Garcia-Manero, Guillermo G; Colla, Simona S
Publication Date: 2022-03-03

Variant appearance in text: KIT: D816V
PubMed Link: 35241842
Variant Present in the following documents:
  • 41591_2022_1696_MOESM3_ESM.xlsx
View BVdb publication page



The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer
Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J
Publication Date: 2022-02

Variant appearance in text: KIT: Asp816Val
PubMed Link: 35221333
Variant Present in the following documents:
  • 43018_2022_332_MOESM3_ESM.xlsx
View BVdb publication page



Emerging Targeted Therapy for Specific Genomic Abnormalities in Acute Myeloid Leukemia.

International Journal Of Molecular Sciences
Chi, Sung-Gi SG; Minami, Yosuke Y
Publication Date: 2022-02-21

Variant appearance in text: KIT: D816V
PubMed Link: 35216478
Variant Present in the following documents:
  • ijms-23-02362.pdf
View BVdb publication page



Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.

Briefings In Bioinformatics
Balagué-Dobón, Laura L; Cáceres, Alejandro A; González, Juan R JR
Publication Date: 2022-02-24

Variant appearance in text: KIT: D816V
PubMed Link: 35211719
Variant Present in the following documents:
  • bbac043.pdf
View BVdb publication page



Combination of Venetoclax and Midostaurin Efficiently Suppressed Relapsed t(8;21)Acute Myeloid Leukemia With Mutant KIT After Failure of Venetoclax Plus Azacitidine Treatment.

Frontiers In Oncology
Li, Zheng Z; Wang, Jun J; Ge, Shuai-Shuai SS; Qiu, Qiao-Cheng QC; Du, Jia-Hui JH; Shan, Shuang-Shuang SS; Shen, Xiang-Dong XD; Wan, Chao-Ling CL; Wang, Bin-Ru BR; Wu, De-Pei DP; Qiu, Hui-Ying HY; Xue, Sheng-Li SL
Publication Date: 2022

Variant appearance in text: KIT: D816V
PubMed Link: 35211416
Variant Present in the following documents:
  • fonc-12-841276.pdf
View BVdb publication page



3, 3'- (3, 5-DCPBC) Down-Regulates Multiple Phosphokinase Dependent Signal Transduction Pathways in Malignant Melanoma Cells through Specific Diminution of EGFRY1086 Phosphorylation.

Molecules (Basel, Switzerland)
Qurat-Ul-Ain, ; Basu, Abhijit A; Choudhary, M Iqbal MI; Scharffetter-Kochanek, Karin K
Publication Date: 2022-02-09

Variant appearance in text: KIT: D816V
PubMed Link: 35208960
Variant Present in the following documents:
  • molecules-27-01172.pdf
View BVdb publication page



Nintedanib overcomes drug resistance from upregulation of FGFR signaling and imatinib-induced KIT mutations in gastrointestinal stromal tumors.

Molecular Oncology
Liu, Juan J; Gao, Jingjing J; Wang, Aoli A; Jiang, Zongru Z; Qi, Shuang S; Qi, Ziping Z; Liu, Feiyang F; Yu, Kailin K; Cao, Jiangyan J; Chen, Cheng C; Hu, Chen C; Wu, Hong H; Wang, Li L; Wang, Wenchao W; Liu, Qingsong Q; Liu, Jing J
Publication Date: 2022-02-23

Variant appearance in text: KIT: D816V
PubMed Link: 35194937
Variant Present in the following documents:
  • MOL2-16-1761.pdf
View BVdb publication page



Evaluation and Classification of Mast Cell Disorders: A Difficult to Manage Pathology in Clinical Practice.

Cureus
Leru, Polliana Mihaela PM
Publication Date: 2022-02

Variant appearance in text: KIT: D816V
PubMed Link: 35174041
Variant Present in the following documents:
  • cureus-0014-00000022177.pdf
View BVdb publication page



Fine Regulation during Wound Healing by Mast Cells, a Physiological Role Not Yet Clarified.

International Journal Of Molecular Sciences
Bacci, Stefano S
Publication Date: 2022-02-05

Variant appearance in text: C-Kit: D816V
PubMed Link: 35163741
Variant Present in the following documents:
  • ijms-23-01820.pdf
View BVdb publication page



Combined Inhibition of Polo-Like Kinase-1 and Wee1 as a New Therapeutic Strategy to Induce Apoptotic Cell Death in Neoplastic Mast Cells.

Cancers
Mancini, Manuela M; Monaldi, Cecilia C; De Santis, Sara S; Rondoni, Michela M; Papayannidis, Cristina C; Sartor, Chiara C; Curti, Antonio A; Bruno, Samantha S; Cavo, Michele M; Soverini, Simona S
Publication Date: 2022-01-31

Variant appearance in text: KIT: D816V
PubMed Link: 35159005
Variant Present in the following documents:
  • Main text
  • cancers-14-00738.pdf
View BVdb publication page



Acquired somatic variants in inherited myeloid malignancies.

Leukemia
Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J
Publication Date: 2022-02-09

Variant appearance in text: KIT: D816V
PubMed Link: 35140362
Variant Present in the following documents:
  • 41375_2022_1515_MOESM4_ESM.xlsx
View BVdb publication page



-2518A/G polymorphism of monocyte chemotactic protein 1 (MCP-1/CCL2) is associated with cutaneous mastocytosis.

Postepy Dermatologii I Alergologii
Ługowska-Umer, Hanna H; Zabłotna, Monika M; Lange, Magdalena M; Niedoszytko, Marek M; Nowicki, Roman J RJ; Nedoszytko, Bogusław B
Publication Date: 2021-12

Variant appearance in text: KIT: D816V
PubMed Link: 35126012
Variant Present in the following documents:
  • Main text
  • PDIA-38-46038.pdf
View BVdb publication page



A case of systemic mastocytosis mimicking POEMS syndrome: A case report.

Medicine
Hou, Yanqiu Y; Jiang, Suyu S; Zhang, Lu L; Wang, Yan Y; Zhang, Liubo L; Bao, Hongyu H; Meng, Qingqi Q; Han, Xue X; Chen, Wanru W; Li, Tiantian T; Peng, Jie J; Zhu, Yilin Y; Huang, Rong R; Liu, Jingan J; Wang, Jianning J; Fang, Chao C; Shi, Xiaofeng X
Publication Date: 2022-02-04

Variant appearance in text: KIT: D816V
PubMed Link: 35119009
Variant Present in the following documents:
  • medi-101-e28651.pdf
View BVdb publication page



Current treatment strategies and future perspectives for gastrointestinal stromal tumors.

World Journal Of Gastrointestinal Pathophysiology
Sugiyama, Yoichi Y; Sasaki, Masaru M; Kouyama, Mohei M; Tazaki, Tatsuya T; Takahashi, Shinya S; Nakamitsu, Atsushi A
Publication Date: 2022-01-22

Variant appearance in text: KIT: D816V
PubMed Link: 35116177
Variant Present in the following documents:
  • Main text
  • WJGP-13-15.pdf
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A Vanishing Cecal Mass: A Rare Gastrointestinal Manifestation of Systemic Mastocytosis.

Cureus
Newman, Krista K; Vercellotti, Gregory G; Snover, Dale D; Peterson, Timothy T; Shmidt, Eugenia E
Publication Date: 2021-12

Variant appearance in text: KIT: D816V
PubMed Link: 35111468
Variant Present in the following documents:
  • Main text
  • cureus-0013-00000020784.pdf
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Successful Imatinib Treatment for Systemic Mastocytosis Associated With Myelodysplastic/Myeloproliferative Neoplasm: Report of a Case and Literature Review.

Frontiers In Oncology
Barozzi, Enrico E; Bucelli, Cristina C; Grifoni, Federica Irene FI; Gianelli, Umberto U; Iurlo, Alessandra A; Cattaneo, Daniele D
Publication Date: 2021

Variant appearance in text: KIT: D816V
PubMed Link: 35096623
Variant Present in the following documents:
  • fonc-11-819097.pdf
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Newly Developed Psoriasis in a Patient with Telangiectasia Macularis Eruptiva Perstans and Systemic Mastocytosis Treated with Interferon.

Case Reports In Dermatology
Péčová, Tatiana T; Burjanivová, Tatiana T; Malicherová, Bibiana B; Péč, Martin Jozef MJ; Rohoň, Igor I; Madleňák, Matúš M; Adamicová, Katarína K; Péč, Juraj J
Publication Date: 2021

Variant appearance in text: KIT: D816V
PubMed Link: 35082619
Variant Present in the following documents:
  • Main text
  • cde-0013-0558.pdf
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Effective anti-SARS-CoV-2 immune response in patients with clonal mast cell disorders.

The Journal Of Allergy And Clinical Immunology. In Practice
Rossignol, Julien J; Ouedrani, Amani A; Livideanu, Cristina Bulai CB; Barete, Stéphane S; Terriou, Louis L; Launay, David D; Lemal, Richard R; Greco, Celine C; Frenzel, Laurent L; Meni, Cecile C; Bodemere-Skandalis, Christine C; Polivka, Laura L; Collange, Anne-Florence AF; Hachichi, Hassiba H; Bouzourine, Sonia S; Messaoud, Djazira Nait DN; Negretto, Mathilde M; Vendrame, Laurence L; Jambou, Marguerite M; Gousseff, Marie M; Durupt, Stéphane S; Lega, Jean-Christophe JC; Durand, Jean-Marc JM; Gaudy, Caroline C; Damaj, Gandhi G; Gourin, Marie-Pierre MP; Hamidou, Mohamed M; Bouillet, Laurence L; Le Mouel, Edwige E; Maria, Alexandre A; Zunic, Patricia P; Cabrera, Quentin Q; Vincent, Denis D; Lavigne, Christian C; Riviere, Etienne E; Gourguechon, Clement C; Brignier, Anne A; Lhermitte, Ludovic L; Molina, Thierry Jo TJ; Bruneau, Julie J; Agopian, Julie J; Dubreuil, Patrice P; Ranta, Dana D; Mania, Alexandre A; Arock, Michel M; Staropoli, Isabelle I; Tournilhac, Olivier O; Lortholary, Olivier O; Schwartz, Olivier O; Chatenoud, Lucienne L; Hermine, Olivier O
Publication Date: 2022-01-21

Variant appearance in text: KIT: D816V
PubMed Link: 35074600
Variant Present in the following documents:
  • main.pdf
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Preclinical model-based evaluation of Imatinib resistance induced by KIT mutations and its overcoming strategies in gastrointestinal stromal tumor (GIST).

American Journal Of Translational Research
Zhao, Qian Q; Zhang, Cheng C; Qi, Changsong C; Yang, Jing J; Chen, Yang Y; Ge, Sai S; Shen, Lin L; Gao, Jing J; Li, Jian J
Publication Date: 2021

Variant appearance in text: KIT: D816V
PubMed Link: 35035701
Variant Present in the following documents:
  • Main text
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Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

Bmc Medical Genomics
Tan, Jaymi J; Chow, Yock Ping YP; Zainul Abidin, Norziha N; Chang, Kian Meng KM; Selvaratnam, Veena V; Tumian, Nor Rafeah NR; Poh, Yang Ming YM; Veerakumarasivam, Abhi A; Laffan, Michael Arthur MA; Wong, Chieh Lee CL
Publication Date: 2022-01-15

Variant appearance in text: KIT: D816V
PubMed Link: 35033063
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_1145.pdf
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Cutaneous mastocytosis in childhood.

Allergologie Select
Nemat, Katja K; Abraham, Susanne S
Publication Date: 2022

Variant appearance in text: KIT: D816V
PubMed Link: 35028497
Variant Present in the following documents:
  • Main text
  • allergologieselect-6-001.pdf
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Systemic Mastocytosis Presenting as Pathologic Intertrochanteric Femur Fracture.

Journal Of The American Academy Of Orthopaedic Surgeons. Global Research & Reviews
Shah, Aadit A; Bhan, Rohit R; Pey, Eduard Praiss EP; Riordan, Haley H; Khan, Fazel F
Publication Date: 2022-01-11

Variant appearance in text: KIT: D816V
PubMed Link: 35020710
Variant Present in the following documents:
  • Main text
  • jagrr-6-e21.00137.pdf
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CCDC88C-FLT3 gene fusion in CD34-positive haematopoietic stem and multilineage cells in myeloid/lymphoid neoplasm with eosinophilia.

Journal Of Cellular And Molecular Medicine
Kurihara, Yuya Y; Mizuno, Hideaki H; Honda, Akira A; Shimura, Arika A; Fujioka, Yosei Y; Maki, Hiroaki H; Kurokawa, Mineo M
Publication Date: 2022-01-12

Variant appearance in text: KIT: D816V
PubMed Link: 35019216
Variant Present in the following documents:
  • Main text
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FDA-Approved Drugs for Hematological Malignancies-The Last Decade Review.

Cancers
Sochacka-Ćwikła, Aleksandra A; Mączyński, Marcin M; Regiec, Andrzej A
Publication Date: 2021-12-24

Variant appearance in text: CD117: D816V
PubMed Link: 35008250
Variant Present in the following documents:
  • cancers-14-00087.pdf
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Pruritus as a Presenting Symptom of FIP1L1-PDGFRA-Positive Chronic Eosinophilic Leukemia.

Journal Of Blood Medicine
Abu-Tineh, Mohammad M; Aljaloudi, Esra'a E; Yassin, Mohamed A MA
Publication Date: 2021

Variant appearance in text: KIT: D816V
PubMed Link: 35002348
Variant Present in the following documents:
  • Main text
  • jbm-12-1061.pdf
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[Anaphylaxis and COVID-19 vaccines].

Revue Francaise D'Allergologie (2009)
Castells, M M; Demoly, P P; Tanno, L K LK
Publication Date: 2021-12

Variant appearance in text: KIT: D816V
PubMed Link: 34980951
Variant Present in the following documents:
  • main.pdf
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Recent Research Progress of Chiral Small Molecular Antitumor-Targeted Drugs Approved by the FDA From 2011 to 2019.

Frontiers In Oncology
Chu, Xuetong X; Bu, Yizhi Y; Yang, Xiaoping X
Publication Date: 2021

Variant appearance in text: KIT: D816V
PubMed Link: 34976824
Variant Present in the following documents:
  • Main text
  • fonc-11-785855.pdf
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Proposed Diagnostic Criteria and Classification of Canine Mast Cell Neoplasms: A Consensus Proposal.

Frontiers In Veterinary Science
Willmann, Michael M; Yuzbasiyan-Gurkan, Vilma V; Marconato, Laura L; Dacasto, Mauro M; Hadzijusufovic, Emir E; Hermine, Olivier O; Sadovnik, Irina I; Gamperl, Susanne S; Schneeweiss-Gleixner, Mathias M; Gleixner, Karoline V KV; Böhm, Thomas T; Peter, Barbara B; Eisenwort, Gregor G; Moriggl, Richard R; Li, Zhixiong Z; Jawhar, Mohamad M; Sotlar, Karl K; Jensen-Jarolim, Erika E; Sexl, Veronika V; Horny, Hans-Peter HP; Galli, Stephen J SJ; Arock, Michel M; Vail, David M DM; Kiupel, Matti M; Valent, Peter P
Publication Date: 2021

Variant appearance in text: KIT: D816V
PubMed Link: 34957277
Variant Present in the following documents:
  • fvets-08-755258.pdf
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A Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years' Experience of the GISM Network.

Cancers
Zanotti, Roberta R; Bonifacio, Massimiliano M; Isolan, Cecilia C; Tanasi, Ilaria I; Crosera, Lara L; Olivieri, Francesco F; Orsolini, Giovanni G; Schena, Donatella D; Bonadonna, Patrizia P
Publication Date: 2021-12-20

Variant appearance in text: KIT: D816V
PubMed Link: 34944999
Variant Present in the following documents:
  • Main text
  • cancers-13-06380.pdf
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Mouse Models of Frequently Mutated Genes in Acute Myeloid Leukemia.

Cancers
Mohanty, Sagarajit S; Heuser, Michael M
Publication Date: 2021-12-08

Variant appearance in text: KIT: D816V
PubMed Link: 34944812
Variant Present in the following documents:
  • cancers-13-06192.pdf
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Case Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib.

Frontiers In Oncology
Sciumè, Mariarita M; Ceparano, Giusy G; Eller-Vainicher, Cristina C; Fabris, Sonia S; Lonati, Silvia S; Croci, Giorgio Alberto GA; Baldini, Luca L; Grifoni, Federica Irene FI
Publication Date: 2021

Variant appearance in text: KIT: D816V
PubMed Link: 34917498
Variant Present in the following documents:
  • Main text
  • fonc-11-734025.pdf
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Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal.

Hemasphere
Valent, Peter P; Akin, Cem C; Hartmann, Karin K; Alvarez-Twose, Ivan I; Brockow, Knut K; Hermine, Olivier O; Niedoszytko, Marek M; Schwaab, Juliana J; Lyons, Jonathan J JJ; Carter, Melody C MC; Elberink, Hanneke Oude HO; Butterfield, Joseph H JH; George, Tracy I TI; Greiner, Georg G; Ustun, Celalettin C; Bonadonna, Patrizia P; Sotlar, Karl K; Nilsson, Gunnar G; Jawhar, Mohamad M; Siebenhaar, Frank F; Broesby-Olsen, Sigurd S; Yavuz, Selim S; Zanotti, Roberta R; Lange, Magdalena M; Nedoszytko, Boguslaw B; Hoermann, Gregor G; Castells, Mariana M; Radia, Deepti H DH; Muñoz-Gonzalez, Javier I JI; Sperr, Wolfgang R WR; Triggiani, Massimo M; Kluin-Nelemans, Hanneke C HC; Galli, Stephen J SJ; Schwartz, Lawrence B LB; Reiter, Andreas A; Orfao, Alberto A; Gotlib, Jason J; Arock, Michel M; Horny, Hans-Peter HP; Metcalfe, Dean D DD
Publication Date: 2021-11

Variant appearance in text: KIT: D816V
PubMed Link: 34901755
Variant Present in the following documents:
  • Main text
  • hs9-5-e646.pdf
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Safety and efficacy of avapritinib in advanced systemic mastocytosis: the phase 1 EXPLORER trial.

Nature Medicine
DeAngelo, Daniel J DJ; Radia, Deepti H DH; George, Tracy I TI; Robinson, William A WA; Quiery, Albert T AT; Drummond, Mark W MW; Bose, Prithviraj P; Hexner, Elizabeth O EO; Winton, Elliott F EF; Horny, Hans-Peter HP; Tugnait, Meera M; Schmidt-Kittler, Oleg O; Evans, Erica K EK; Lin, Hui-Min HM; Mar, Brenton G BG; Verstovsek, Srdan S; Deininger, Michael W MW; Gotlib, Jason J
Publication Date: 2021-12-06

Variant appearance in text: KIT: Asp816Val
PubMed Link: 34873347
Variant Present in the following documents:
  • Main text
  • 41591_2021_Article_1538.pdf
  • 41591_2021_1538_MOESM1_ESM.pdf
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Efficacy and safety of avapritinib in advanced systemic mastocytosis: interim analysis of the phase 2 PATHFINDER trial.

Nature Medicine
Gotlib, Jason J; Reiter, Andreas A; Radia, Deepti H DH; Deininger, Michael W MW; George, Tracy I TI; Panse, Jens J; Vannucchi, Alessandro M AM; Platzbecker, Uwe U; Alvarez-Twose, Iván I; Mital, Andrzej A; Hermine, Olivier O; Dybedal, Ingunn I; Hexner, Elizabeth O EO; Hicks, Lisa K LK; Span, Lambert L; Mesa, Ruben R; Bose, Prithviraj P; Pettit, Kristen M KM; Heaney, Mark L ML; Oh, Stephen T ST; Sen, Jayita J; Lin, Hui-Min HM; Mar, Brenton G BG; DeAngelo, Daniel J DJ
Publication Date: 2021-12-06

Variant appearance in text: KIT: D816V
PubMed Link: 34873345
Variant Present in the following documents:
  • Main text
  • 41591_2021_Article_1539.pdf
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Granule Leakage Induces Cell-Intrinsic, Granzyme B-Mediated Apoptosis in Mast Cells.

Frontiers In Cell And Developmental Biology
Burgener, Sabrina Sofia SS; Brügger, Melanie M; Leborgne, Nathan Georges François NGF; Sollberger, Sophia S; Basilico, Paola P; Kaufmann, Thomas T; Bird, Phillip Ian PI; Benarafa, Charaf C
Publication Date: 2021

Variant appearance in text: KIT: D816V
PubMed Link: 34858967
Variant Present in the following documents:
  • fcell-09-630166.pdf
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Nicotinamide promotes cardiomyocyte derivation and survival through kinase inhibition in human pluripotent stem cells.

Cell Death & Disease
Meng, Ya Y; Song, Chengcheng C; Ren, Zhili Z; Li, Xiaohong X; Yang, Xiangyu X; Ai, Nana N; Yang, Yang Y; Wang, Dongjin D; Zhan, Meixiao M; Wang, Jiaxian J; Lei, Chon Lok CL; Liu, Weiwei W; Ge, Wei W; Lu, Ligong L; Chen, Guokai G
Publication Date: 2021-11-29

Variant appearance in text: KIT: D816V
PubMed Link: 34845199
Variant Present in the following documents:
  • 41419_2021_4395_MOESM9_ESM.xlsx
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Activators and Inhibitors of Protein Kinase C (PKC): Their Applications in Clinical Trials.

Pharmaceutics
Kawano, Takahito T; Inokuchi, Junichi J; Eto, Masatoshi M; Murata, Masaharu M; Kang, Jeong-Hun JH
Publication Date: 2021-10-20

Variant appearance in text: KIT: D816V
PubMed Link: 34834162
Variant Present in the following documents:
  • Main text
  • pharmaceutics-13-01748.pdf
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Precision Medicine in Systemic Mastocytosis.

Medicina (Kaunas, Lithuania)
Nicolosi, Maura M; Patriarca, Andrea A; Andorno, Annalisa A; Mahmoud, Abdurraouf Mokhtar AM; Gennari, Alessandra A; Boldorini, Renzo R; Gaidano, Gianluca G; Crisà, Elena E
Publication Date: 2021-10-20

Variant appearance in text: KIT: D816V
PubMed Link: 34833353
Variant Present in the following documents:
  • Main text
  • medicina-57-01135.pdf
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Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.

Life (Basel, Switzerland)
Easwar, Arti A; Siddon, Alexa J AJ
Publication Date: 2021-10-30

Variant appearance in text: KIT: D816V
PubMed Link: 34833034
Variant Present in the following documents:
  • life-11-01158.pdf
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FLT3-ITD transduces autonomous growth signals during its biosynthetic trafficking in acute myelogenous leukemia cells.

Scientific Reports
Yamawaki, Kouhei K; Shiina, Isamu I; Murata, Takatsugu T; Tateyama, Satoru S; Maekawa, Yutarou Y; Niwa, Mariko M; Shimonaka, Motoyuki M; Okamoto, Koji K; Suzuki, Toshihiro T; Nishida, Toshirou T; Abe, Ryo R; Obata, Yuuki Y
Publication Date: 2021-11-22

Variant appearance in text: KIT: D816V
PubMed Link: 34811450
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2221.pdf
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STAT proteins: a kaleidoscope of canonical and non-canonical functions in immunity and cancer.

Journal Of Hematology & Oncology
Awasthi, Nagendra N; Liongue, Clifford C; Ward, Alister C AC
Publication Date: 2021-11-22

Variant appearance in text: KIT: D816V
PubMed Link: 34809691
Variant Present in the following documents:
  • Main text
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Cardiac complications in a patient affected by systemic mastocytosis and primitive myelofibrosis: A case report.

Clinical Case Reports
Suppa, Marianna M; Marino, Luca L; Piccari, Pietro P; Masselli, Gabriele G; Gradini, Roberto R
Publication Date: 2021-11

Variant appearance in text: KIT: D816V
PubMed Link: 34804526
Variant Present in the following documents:
  • Main text
  • CCR3-9-e04972.pdf
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Pediatric Mastocytosis: An Update.

Mediterranean Journal Of Hematology And Infectious Diseases
Giona, Fiorina F
Publication Date: 2021

Variant appearance in text: KIT: D816V
PubMed Link: 34804443
Variant Present in the following documents:
  • Main text
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