Publications:

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Blood tumor mutational burden and dynamic changes in circulating tumor DNA predict response to pembrolizumab treatment in advanced non-small cell lung cancer.

Translational Lung Cancer Research

Stensgaard, Simone S; Thomsen, Astrid A; Helstrup, Sofie S; Meldgaard, Peter P; Sorensen, Boe S BS

Publication Date: 2023-05-31

Variant appearance in text: KIT: 2447A>T; Asp816Val

PubMed Link: 37323168

Variant Present in the following documents:

• tlcr-12-05-971-supplementary.pdf

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Characterization of p38α autophosphorylation inhibitors that target the non-canonical activation pathway.

Nature Communications

González, Lorena L; Díaz, Lucía L; Pous, Joan J; Baginski, Blazej B; Duran-Corbera, Anna A; Scarpa, Margherita M; Brun-Heath, Isabelle I; Igea, Ana A; Martin-Malpartida, Pau P; Ruiz, Lidia L; Pallara, Chiara C; Esguerra, Mauricio M; Colizzi, Francesco F; Mayor-Ruiz, Cristina C; Biondi, Ricardo M RM; Soliva, Robert R; Macias, Maria J MJ; Orozco, Modesto M; Nebreda, Angel R AR

Publication Date: 2023-06-12

Variant appearance in text: KIT: D816V

PubMed Link: 37308482

Variant Present in the following documents:

• 41467_2023_39051_MOESM3_ESM.xlsx, sheet 5

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From a drug repositioning to a structure-based drug design approach to tackle acute lymphoblastic leukemia.

Nature Communications

Saez-Ayala, Magali M; Hoffer, Laurent L; Abel, Sébastien S; Ben Yaala, Khaoula K; Sicard, Benoit B; Andrieu, Guillaume P GP; Latiri, Mehdi M; Davison, Emma K EK; Ciufolini, Marco A MA; Brémond, Paul P; Rebuffet, Etienne E; Roche, Philippe P; Derviaux, Carine C; Voisset, Edwige E; Montersino, Camille C; Castellano, Remy R; Collette, Yves Y; Asnafi, Vahid V; Betzi, Stéphane S; Dubreuil, Patrice P; Combes, Sébastien S; Morelli, Xavier X

Publication Date: 2023-05-29

Variant appearance in text: KIT: D816V

PubMed Link: 37248212

Variant Present in the following documents:

• 41467_2023_38668_MOESM2_ESM.pdf
• 41467_2023_Article_38668.pdf
• 41467_2023_38668_MOESM1_ESM.pdf

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The Curious Case of Elevated Tryptase: Workup and Differential in Family of Four.

Cureus

Cochran, Audra L AL; Coop, Christopher C; Neaves, Brittanie I BI; Wood, Stuart T ST

Publication Date: 2023-04

Variant appearance in text: KIT: D816V

PubMed Link: 37228529

Variant Present in the following documents:

• Main text
• cureus-0015-00000038065.pdf

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Advances in Allogeneic Hematopoietic Stem Cell Transplantation for Acute Leukemia.

Blood Cell Therapy

Nannya, Yasuhito Y; Viswabandya, Auro A; Lu, Peihua P

Publication Date: 2022-12-23

Variant appearance in text: KIT: D816V

PubMed Link: 37220610

Variant Present in the following documents:

• 2432-7026-5-S-S0025.pdf

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French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes.

Orphanet Journal Of Rare Diseases

Groh, Matthieu M; Rohmer, Julien J; Etienne, Nicolas N; Abou Chahla, Wadih W; Baudet, Antoine A; Chan Hew Wai, Aurélie A; Chenivesse, Cécile C; Clisson Rusek, Irena I; Cottin, Vincent V; Decamp, Matthieu M; De Groote, Pascal P; Delahousse, Fanny F; Duployez, Nicolas N; Faguer, Stanislas S; Gottrand, Frédéric F; Huang, Florent F; Leblanc, Thierry T; Magnan, Antoine A; Martin, Thierry T; Mortuaire, Geoffrey G; Néel, Antoine A; Paris, Luc L; Petit, Arnaud A; Rossignol, Julien J; Schleinitz, Nicolas N; Soret-Dulphy, Juliette J; Staumont-Salle, Delphine D; Terrier, Benjamin B; Terriou, Louis L; Viallard, Jean-François JF; Lefèvre, Guillaume G; Kahn, Jean-Emmanuel JE

Publication Date: 2023-04-30

Variant appearance in text: KIT: D816V

PubMed Link: 37122022

Variant Present in the following documents:

• Main text
• 13023_2023_Article_2696.pdf

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Secretory and Membrane-Associated Biomarkers of Mast Cell Activation and Proliferation.

International Journal Of Molecular Sciences

Parente, Roberta R; Giudice, Valentina V; Cardamone, Chiara C; Serio, Bianca B; Selleri, Carmine C; Triggiani, Massimo M

Publication Date: 2023-04-11

Variant appearance in text: KIT: Asp816Val

PubMed Link: 37108232

Variant Present in the following documents:

• Main text
• ijms-24-07071.pdf

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Recent advances in diagnosis and therapy in systemic mastocytosis.

Blood Research

Lee, Hyun Jung HJ

Publication Date: 2023-04-30

Variant appearance in text: KIT: D816V

PubMed Link: 37105564

Variant Present in the following documents:

• Main text
• br-58-s1-s96.pdf

View BVdb publication page

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Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Molecular Diagnosis & Therapy

Fitzgerald, Sandra S; Blenkiron, Cherie C; Stephens, Rosalie R; Mathy, Jon A JA; Somers-Edgar, Tiffany T; Rolfe, Gill G; Martin, Richard R; Jackson, Christopher C; Eccles, Michael M; Robb, Tamsin T; Rodger, Euan E; Lawrence, Ben B; Guilford, Parry P; Lasham, Annette A; Print, Cristin G CG

Publication Date: 2023-04-26

Variant appearance in text: KIT: 2447A>T; D816V

PubMed Link: 37099071

Variant Present in the following documents:

• 40291_2023_651_MOESM1_ESM.xlsx, sheet 2

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Lung-specific MCEMP1 functions as an adaptor for KIT to promote SCF-mediated mast cell proliferation.

Nature Communications

Choi, Youn Jung YJ; Yoo, Ji-Seung JS; Jung, Kyle K; Rice, Logan L; Kim, Dokyun D; Zlojutro, Violetta V; Frimel, Matthew M; Madden, Evan E; Choi, Un Yung UY; Foo, Suan-Sin SS; Choi, Younho Y; Jiang, Zhongyi Z; Johnson, Holly H; Kwak, Mi-Jeong MJ; Kang, Seokmin S; Hong, Brian B; Seo, Gil Ju GJ; Kim, Stephanie S; Lee, Shin-Ae SA; Amini-Bavil-Olyaee, Samad S; Maazi, Hadi H; Akbari, Omid O; Asosingh, Kewal K; Jung, Jae U JU

Publication Date: 2023-04-11

Variant appearance in text: KIT: D816V

PubMed Link: 37041174

Variant Present in the following documents:

• Main text
• 41467_2023_Article_37873.pdf

View BVdb publication page

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Discovery of an In Vivo Chemical Probe for BCL6 Inhibition by Optimization of Tricyclic Quinolinones.

Journal Of Medicinal Chemistry

Harnden, Alice C AC; Davis, Owen A OA; Box, Gary M GM; Hayes, Angela A; Johnson, Louise D LD; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Valenti, Melanie M; Cheung, Kwai-Ming J KJ; Brennan, Alfie A; Huckvale, Rosemary R; Pierrat, Olivier A OA; Talbot, Rachel R; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; de Klerk, Selby S; McAndrew, Peter Craig PC; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S

Publication Date: 2023-04-07

Variant appearance in text: KIT: D816V

PubMed Link: 37026591

Variant Present in the following documents:

• jm3c00155_si_002.xlsx, sheet 2

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: KIT: D816V

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Frontiers In Oncology

Cabral, Eduardo R M ERM; Pacanhella, Marilia F MF; Lengert, Andre V H AVH; Dos Reis, Mariana B MB; Leal, Leticia F LF; de Lima, Marcos A MA; da Silva, Aline L V ALV; Pinto, Icaro A IA; Reis, Rui M RM; Pinto, Mariana T MT; Cárcano, Flavio M FM

Publication Date: 2023

Variant appearance in text: KIT: D816V

PubMed Link: 37007070

Variant Present in the following documents:

• Main text
• fonc-13-1133363.pdf

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Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Communications Biology

Cheng, Chi-Keung CK; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Leung, Kam-Tong KT; Chan, Kathy Y Y KYY; Leung, Alex W K AWK; Cheng, Frankie W T FWT; Li, Chi-Kong CK; Wan, Thomas S K TSK; Luo, Xi X; Pitts, Herbert-Augustus HA; Cheung, Joyce S JS; Chan, Natalie P H NPH; Ng, Margaret H L MHL

Publication Date: 2023-03-31

Variant appearance in text: KIT: 2447A>T; D816V; rs121913507

PubMed Link: 37002311

Variant Present in the following documents:

• 42003_2023_4732_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Modulating fast skeletal muscle contraction protects skeletal muscle in animal models of Duchenne muscular dystrophy.

The Journal Of Clinical Investigation

Russell, Alan J AJ; DuVall, Mike M; Barthel, Benjamin B; Qian, Ying Y; Peter, Angela K AK; Newell-Stamper, Breanne L BL; Hunt, Kevin K; Lehman, Sarah J SJ; Madden, Molly R MR; Schlachter, Stephen T ST; Robertson, Benjamin D BD; Van Deusen, Ashleigh A; Rodriguez, Hector M HM; Vera, Carlos D CD; Su, Yu Y; Claflin, Dennis R DR; Brooks, Susan V SV; Nghiem, Peter P PP; Rutledge, Alexis A; Juehne, Twlya I TI; Yu, Jinsheng J; Barton, Elisabeth R ER; Luo, Yangyi E YE; Patsalos, Andreas A; Nagy, Laszlo L; Sweeney, H Lee HL; Leinwand, Leslie A LA; Koch, Kevin K

Publication Date: 2023-03-30

Variant appearance in text: KIT: D816V

PubMed Link: 36995778

Variant Present in the following documents:

• jci-133-153837-s035.xlsx, sheet 1

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Neuropsychiatric Adverse Drug Reactions with Tyrosine Kinase Inhibitors in Gastrointestinal Stromal Tumors: An Analysis from the European Spontaneous Adverse Event Reporting System.

Cancers

Barbieri, Maria Antonietta MA; Sorbara, Emanuela Elisa EE; Russo, Giulia G; Cicala, Giuseppe G; Franchina, Tindara T; Santarpia, Mariacarmela M; Silvestris, Nicola N; Spina, Edoardo E

Publication Date: 2023-03-20

Variant appearance in text: KIT: D816V

PubMed Link: 36980737

Variant Present in the following documents:

• Main text
• cancers-15-01851.pdf

View BVdb publication page

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Sodium butyrate supresses malignant human mast cell proliferation, downregulates expression of KIT and promotes differentiation.

Frontiers In Allergy

MacDonald, Clayton A CA; Qian, Hui H; Pundir, Priyanka P; Kulka, Marianna M

Publication Date: 2023

Variant appearance in text: KIT: D816V

PubMed Link: 36970068

Variant Present in the following documents:

• Main text
• falgy-04-1109717.pdf

View BVdb publication page

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Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF©) and determination of a threshold score for moderate symptoms.

Orphanet Journal Of Rare Diseases

Shields, Alan L AL; Taylor, Fiona F; Lamoureux, Roger E RE; Padilla, Brad B; Severson, Kas K; Green, Tanya T; Boral, Anthony L AL; Akin, Cem C; Siebenhaar, Frank F; Mar, Brenton B

Publication Date: 2023-03-25

Variant appearance in text: KIT: D816V

PubMed Link: 36964624

Variant Present in the following documents:

• Main text
• 13023_2023_Article_2661.pdf

View BVdb publication page

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Deep Annotation of Donated Chemical Probes (DCP) in Organotypic Human Liver Cultures and Patient-Derived Organoids from Tumor and Normal Colorectum.

Acs Chemical Biology

Tredup, Claudia C; Ndreshkjana, Benardina B; Schneider, Natalie S NS; Tjaden, Amelie A; Kemas, Aurino M AM; Youhanna, Sonia S; Lauschke, Volker M VM; Berger, Benedict-Tilman BT; Krämer, Andreas A; Berger, Lena M LM; Röhm, Sandra S; Knapp, Stefan S; Farin, Henner F HF; Müller, Susanne S

Publication Date: 2023-03-21

Variant appearance in text: KIT: D816V

PubMed Link: 36944371

Variant Present in the following documents:

• cb2c00877_si_004.xlsx, sheet 1

View BVdb publication page

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Preclinical development and evaluation of nanobody-based CD70-specific CAR T cells for the treatment of acute myeloid leukemia.

Cancer Immunology, Immunotherapy : Cii

Cheng, Jiali J; Ge, Tong T; Zhu, Xiaojian X; Wang, Jue J; Zeng, Yuhao Y; Mu, Wei W; Cai, Haodong H; Dai, Zhenyu Z; Jin, Jin J; Yang, Yongkun Y; Hu, Guang G; Mao, Xia X; Zhou, Jianfeng J; Zhu, Li L; Huang, Liang L

Publication Date: 2023-03-17

Variant appearance in text: KIT: D816V

PubMed Link: 36932256

Variant Present in the following documents:

• 262_2023_3422_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Engraftment in NSGSCF mice correlates with the WHO category and prognosis in systemic mastocytosis.

Leukemia

Willmann, Michael M; Peter, Barbara B; Slavnitsch, Katharina K; Berger, Daniela D; Witzeneder, Nadine N; Stefanzl, Gabriele G; Eisenwort, Gregor G; Ivanov, Daniel D; Sadovnik, Irina I; Hadzijusufovic, Emir E; Greiner, Georg G; Bernthaler, Tina T; Hoermann, Gregor G; Dahlhoff, Maik M; Rülicke, Thomas T; Valent, Peter P

Publication Date: 2023-03-14

Variant appearance in text: KIT: D816V

PubMed Link: 36918646

Variant Present in the following documents:

• Main text
• 41375_2023_Article_1871.pdf

View BVdb publication page

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Molecular Mechanisms of Gastrointestinal Stromal Tumors and Their Impact on Systemic Therapy Decision.

Cancers

Unk, Mojca M; Jezeršek Novaković, Barbara B; Novaković, Srdjan S

Publication Date: 2023-02-27

Variant appearance in text: KIT: D816V

PubMed Link: 36900287

Variant Present in the following documents:

• Main text
• cancers-15-01498.pdf

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Investigation of the anti-tumor mechanism of tirabrutinib, a highly selective Bruton's tyrosine kinase inhibitor, by phosphoproteomics and transcriptomics.

Plos One

Kozaki, Ryohei R; Yasuhiro, Tomoko T; Kato, Hikaru H; Murai, Jun J; Hotta, Shingo S; Ariza, Yuko Y; Sakai, Shunsuke S; Fujikawa, Ryu R; Yoshida, Takao T

Publication Date: 2023

Variant appearance in text: KIT: D816V

PubMed Link: 36897912

Variant Present in the following documents:

• pone.0282166.s009.xlsx, sheet 1

View BVdb publication page

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SETD2 non genomic loss of function in advanced systemic mastocytosis is mediated by an Aurora kinase A/MDM2 axis and can be therapeutically targeted.

Biomarker Research

Mancini, Manuela M; Monaldi, Cecilia C; De Santis, Sara S; Papayannidis, Cristina C; Rondoni, Michela M; Sartor, Chiara C; Bruno, Samantha S; Pagano, Livio L; Criscuolo, Marianna M; Zanotti, Roberta R; Bonifacio, Massimiliano M; Tosi, Patrizia P; Arock, Michel M; Valent, Peter P; Cavo, Michele M; Soverini, Simona S

Publication Date: 2023-03-10

Variant appearance in text: KIT: D816V

PubMed Link: 36894973

Variant Present in the following documents:

• Main text
• 40364_2023_Article_468.pdf

View BVdb publication page

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Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay.

Cureus

Watanabe, Yusuke Y; Morichi, Shinichiro S; Takamatsu, Tomoko T; Ito, Tomonobu T; Yamanaka, Gaku G

Publication Date: 2023-02

Variant appearance in text: KIT: D816V

PubMed Link: 36874330

Variant Present in the following documents:

• Main text
• cureus-0015-00000034536.pdf

View BVdb publication page

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Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.

Human Genomics

Yun, Jiwon J; Song, Hyojin H; Kim, Sung-Min SM; Kim, Soonok S; Kwon, Seok Ryun SR; Lee, Young Eun YE; Jeong, Dajeong D; Park, Jae Hyeon JH; Kwon, Sunghoon S; Yun, Hongseok H; Lee, Dong Soon DS

Publication Date: 2023-02-23

Variant appearance in text: KIT: 2447A>T; Asp816Val

PubMed Link: 36814285

Variant Present in the following documents:

• 40246_2023_458_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications

Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI

Publication Date: 2023-02-08

Variant appearance in text: KIT: D816V

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Mast Cell Sarcoma of Small Intestine, Early Diagnosis, and Good Prognosis: An Extremely Rare Case Report and Review of the Literature.

Gastrointestinal Tumors

Geramizadeh, Bita B; Nabavizadeh, Sara S; Rezvani, Alireza A; Shamsolvaezin, Nadereh N; Zahedinassab, Alireza A; Khodadadi, Neda N; Iranpour, Pouya P

Publication Date: 2023

Variant appearance in text: KIT: D816V

PubMed Link: 36742415

Variant Present in the following documents:

• Main text
• gat-2023-0010-0001-528887.pdf

View BVdb publication page

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Somatic genetic alterations predict haematological progression in GATA2 deficiency.

Haematologica

Largeaud, Laetitia L; Collin, Matthew M; Monselet, Nils N; Vergez, Francois F; Fregona, Vincent V; Larcher, Lise L; Hirsch, Pierre P; Duployez, Nicolas N; Bidet, Audrey A; Luquet, Isabelle I; Bustamante, Jacinta J; Dufrechou, Stephanie S; Prade, Nais N; Nolla, Marie M; Hamelle, Camille C; Tavitian, Suzanne S; Habib, Christophe C; Meynier, Mateo M; Bellanne-Chantelot, Christine C; Donadieu, Jean J; De Fontbrune, Flore Sicre FS; Fieschi, Claire C; Ferster, Alina A; Delhommeau, Francois F; Delabesse, Eric E; Pasquet, Marlene M

Publication Date: 2023-02-02

Variant appearance in text: KIT: 2447A>T; Asp816Val

PubMed Link: 36727400

Variant Present in the following documents:

• 2022_282250_LARGEAUD_TABS4_SUPPL.xlsx, sheet 1

View BVdb publication page

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Eosinophilia attention, diagnosis, treatment, and awareness in physicians: a cross-sectional survey.

Therapeutic Advances In Chronic Disease

Chen, Bigui B; Fu, Yu Y; Wang, Zhufeng Z; Rong, Qiuping Q; Zhang, Qingling Q; Xie, Jiaxing J; Kong, Xuetao X; Jiang, Mei M

Publication Date: 2023

Variant appearance in text: KIT: D816V

PubMed Link: 36712467

Variant Present in the following documents:

• 10.1177_20406223221146938.pdf

View BVdb publication page

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