Publications:

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Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.

Frontiers In Genetics

Qian, Haoran H; Yan, Na N; Hu, Xiaotong X; Jiang, Junchang J; Cao, Zhengzheng Z; Shen, Dan D

Publication Date: 2022

Variant appearance in text: KIT: W557_V559delinsF

PubMed Link: 35547262

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

View BVdb publication page

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Circulating Tumor DNA Mutations in Progressive Gastrointestinal Stromal Tumors Identify Biomarkers of Treatment Resistance and Uncover Potential Therapeutic Strategies.

Frontiers In Oncology

Ko, Tun Kiat TK; Lee, Elizabeth E; Ng, Cedric Chuan-Young CC; Yang, Valerie Shiwen VS; Farid, Mohamad M; Teh, Bin Tean BT; Chan, Jason Yongsheng JY; Somasundaram, Nagavalli N

Publication Date: 2022

Variant appearance in text: KIT: 1670_1675del

PubMed Link: 35273917

Variant Present in the following documents:

• Main text
• fonc-12-840843.pdf

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Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).

Therapeutic Advances In Medical Oncology

Incorvaia, Lorena L; Badalamenti, Giuseppe G; Fanale, Daniele D; Vincenzi, Bruno B; Luca, Ida De I; Algeri, Laura L; Barraco, Nadia N; Brando, Chiara C; Bonasera, Annalisa A; Bono, Marco M; Castiglia, Marta M; Cancelliere, Daniela D; Cani, Massimiliano M; Corsini, Lidia Rita LR; Fiorino, Alessia A; Galvano, Antonio A; Pedone, Erika E; Perez, Alessandro A; Pivetti, Alessia A; Graceffa, Giuseppa G; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V

Publication Date: 2021

Variant appearance in text: KIT: W557_V559delinsF

PubMed Link: 34616493

Variant Present in the following documents:

• Main text
• 10.1177_17588359211049779.pdf

View BVdb publication page

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Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).

Therapeutic Advances In Medical Oncology

Incorvaia, Lorena L; Badalamenti, Giuseppe G; Fanale, Daniele D; Vincenzi, Bruno B; Luca, Ida De I; Algeri, Laura L; Barraco, Nadia N; Brando, Chiara C; Bonasera, Annalisa A; Bono, Marco M; Castiglia, Marta M; Cancelliere, Daniela D; Cani, Massimiliano M; Rita Corsini, Lidia L; Fiorino, Alessia A; Galvano, Antonio A; Pedone, Erika E; Perez, Alessandro A; Pivetti, Alessia A; Graceffa, Giuseppa G; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V

Publication Date: 2021

Variant appearance in text: KIT: W557_V559delinsF

PubMed Link: 34616493

Variant Present in the following documents:

• Main text
• 10.1177_17588359211049779.pdf

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: KIT: 1670_1675delGGAAGG; W557_K558del

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Type and Gene Location of KIT Mutations Predict Progression-Free Survival to First-Line Imatinib in Gastrointestinal Stromal Tumors: A Look into the Exon.

Cancers

Incorvaia, Lorena L; Fanale, Daniele D; Vincenzi, Bruno B; De Luca, Ida I; Bartolotta, Tommaso Vincenzo TV; Cannella, Roberto R; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V; Badalamenti, Giuseppe G

Publication Date: 2021-02-27

Variant appearance in text: KIT: W557_V559delinsF

PubMed Link: 33673554

Variant Present in the following documents:

• Main text
• cancers-13-00993.pdf

View BVdb publication page

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Identification of Wee1 as a target in combination with avapritinib for gastrointestinal stromal tumor treatment.

Jci Insight

Ye, Shuai S; Sharipova, Dinara D; Kozinova, Marya M; Klug, Lilli L; D'Souza, Jimson J; Belinsky, Martin G MG; Johnson, Katherine J KJ; Einarson, Margret B MB; Devarajan, Karthik K; Zhou, Yan Y; Litwin, Samuel S; Heinrich, Michael C MC; DeMatteo, Ronald R; von Mehren, Margaret M; Duncan, James S JS; Rink, Lori L

Publication Date: 2021-01-25

Variant appearance in text: KIT: Trp557_Val559delinsPhe

PubMed Link: 33320833

Variant Present in the following documents:

• jciinsight-6-143474.pdf

View BVdb publication page

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: KIT: 1670_1675delGGAAGG; W557_K558del

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Plocabulin, a novel tubulin inhibitor, has potent antitumor activity in patient-derived xenograft models of gastrointestinal stromal tumors.

Translational Oncology

Wang, Yannick Y; Wozniak, Agnieszka A; Wellens, Jasmien J; Gebreyohannes, Yemarshet K YK; Guillén, Maria Jose MJ; Avilés, Pablo M PM; Debiec-Rychter, Maria M; Sciot, Raf R; Schöffski, Patrick P

Publication Date: 2020-11

Variant appearance in text: KIT: W557_V559delinsF

PubMed Link: 32711367

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: KIT: 1670_1675delGGAAGG; W557_V559delinsF

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer

Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A

Publication Date: 2020-04-07

Variant appearance in text: KIT: 1670_1675del

PubMed Link: 32264863

Variant Present in the following documents:

• 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours.

International Journal Of Oncology

Bombac, Alenka A; Zakotnik, Branko B; Bucic, Marina M; Setrajcic Dragos, Vita V; Gazic, Barbara B; Stegel, Vida V; Klancar, Gasper G; Novakovic, Srdjan S

Publication Date: 2020-06

Variant appearance in text: KIT: 1670_1675del

PubMed Link: 32236636

Variant Present in the following documents:

• Supplementary_Data.pdf

View BVdb publication page

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KIT and PDGFRa mutational patterns in Sardinian patients with gastrointestinal stromal tumors.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Palomba, Grazia G; Paliogiannis, Panagiotis P; Sini, Maria C MC; Colombino, Maria M; Casula, Milena M; Manca, Antonella A; Pisano, Marina M; Sotgiu, Giovanni G; Doneddu, Valentina V; Palmieri, Giuseppe G; Cossu, Antonio A

Publication Date: 2021-01

Variant appearance in text: KIT: 1670_1675delGGAAGG; Trp557_Lys558del

PubMed Link: 32091431

Variant Present in the following documents:

• ejcp-30-53-s001.pdf

View BVdb publication page

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Clinico-Pathological Characteristics and Mutational Analysis of Gastrointestinal Stromal Tumors from India: A Single Institution Experience.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Minhas, Sachin S; Bhalla, Sunita S; Jauhri, Mayank M; Ganvir, Madhusudan M; Aggarwal, Shyam S

Publication Date: 2019-10-01

Variant appearance in text: KIT: Trp557_Val559delinsPhe

PubMed Link: 31653154

Variant Present in the following documents:

• Main text

View BVdb publication page

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Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors.

Cancer Science

Ohshima, Keiichi K; Fujiya, Keiichi K; Nagashima, Takeshi T; Ohnami, Sumiko S; Hatakeyama, Keiichi K; Urakami, Kenichi K; Naruoka, Akane A; Watanabe, Yuko Y; Moromizato, Sachi S; Shimoda, Yuji Y; Ohnami, Shumpei S; Serizawa, Masakuni M; Akiyama, Yasuto Y; Kusuhara, Masatoshi M; Mochizuki, Tohru T; Sugino, Takashi T; Shiomi, Akio A; Tsubosa, Yasuhiro Y; Uesaka, Katsuhiko K; Terashima, Masanori M; Yamaguchi, Ken K

Publication Date: 2019-12

Variant appearance in text: KIT: 1670_1675delGGAAGG; W557_V559delinsF

PubMed Link: 31553483

Variant Present in the following documents:

• CAS-110-3821-s012.xlsx, sheet 1
• CAS-110-3821-s008.xlsx, sheet 1
• CAS-110-3821-s012.xlsx, sheet 2
• CAS-110-3821-s009.xlsx, sheet 1

View BVdb publication page

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Case report of rhabdomyosarcomatous transformation of a primary gastrointestinal stromal tumor (GIST).

Bmc Cancer

Li, Li L; Khalili, Marian M; Johannes, Gregg G; Baratam, Praneeth P; Morano, William F WF; Styler, Michael M; Bowne, Wilbur B WB; Hou, J Steve JS

Publication Date: 2019-09-13

Variant appearance in text: KIT: 1670_1675delGGAAGG; W557_V559delinsF

PubMed Link: 31514735

Variant Present in the following documents:

• Main text
• 12885_2019_Article_6085.pdf

View BVdb publication page

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Molecular Comparison of Imatinib-Naïve and Resistant Gastrointestinal Stromal Tumors: Differentially Expressed microRNAs and mRNAs.

Cancers

Amirnasr, Azadeh A; Gits, Caroline M M CMM; van Kuijk, Patricia F PF; Smid, Marcel M; Vriends, Anne L M ALM; Rutkowski, Piotr P; Sciot, Raf R; Schöffski, Patrick P; Debiec-Rychter, Maria M; Sleijfer, Stefan S; Wiemer, Erik A C EAC

Publication Date: 2019-06-24

Variant appearance in text: KIT: W557_V559delinsF

PubMed Link: 31238586

Variant Present in the following documents:

• Main text
• cancers-11-00882.pdf

View BVdb publication page

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The assessment of minimal residual disease versus that of somatic mutations for predicting the outcome of acute myeloid leukemia patients.

Cancer Cell International

Salehzadeh, Serena S; Guerrini, Francesca F; Pizzano, Umberto U; Grassi, Susanna S; Ciabatti, Elena E; Iovino, Lorenzo L; Buda, Gabriele G; Caracciolo, Francesco F; Benedetti, Edoardo E; Orciuolo, Enrico E; Pelosini, Matteo M; Consani, Giovanni G; Carulli, Giovanni G; Metelli, Maria Rita MR; Martini, Francesca F; Mazziotta, Francesco F; Mazzantini, Elisa E; Rossi, Pietro P; Tavarozzi, Rita R; Ricci, Federica F; Petrini, Mario M; Galimberti, Sara S

Publication Date: 2019

Variant appearance in text: KIT: 1670_1675delGGAAGG; W557_K558del

PubMed Link: 30992690

Variant Present in the following documents:

• Main text

View BVdb publication page

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A single digital droplet PCR assay to detect multiple KIT exon 11 mutations in tumor and plasma from patients with gastrointestinal stromal tumors.

Oncotarget

Boonstra, Pieter A PA; Ter Elst, Arja A; Tibbesma, Marco M; Bosman, Lisette J LJ; Mathijssen, Ron R; Atrafi, Florence F; van Coevorden, Frits F; Steeghs, Neeltje N; Farag, Sheima S; Gelderblom, Hans H; van der Graaf, Winette T A WTA; Desar, Ingrid M E IME; Maier, Jacqueline J; Overbosch, Jelle J; Suurmeijer, Albert J H AJH; Gietema, Jourik J; Schuuring, Ed E; Reyners, Anna K L AKL

Publication Date: 2018-03-02

Variant appearance in text: KIT: 1670_1675del

PubMed Link: 29568401

Variant Present in the following documents:

• Main text
• oncotarget-09-13870.pdf

View BVdb publication page

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Unraveling the spectrum of KIT mutations in gastrointestinal stromal tumors: An Indian Tertiary Cancer Center Experience.

South Asian Journal Of Cancer

Pai, Trupti T; Bal, Munita M; Shetty, Omshree O; Gurav, Mamta M; Ostwal, Vikas V; Ramaswamy, Anant A; Ramadwar, Mukta M; Desai, Sangeeta S

Publication Date: 2017

Variant appearance in text: KIT: 1670_1675delGGAAGG

PubMed Link: 28975118

Variant Present in the following documents:

• SAJC-6-113.pdf

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: KIT: 1670_1675delGGAAGG; W557_K558del

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Succinate dehydrogenase deficiency in a PDGFRA mutated GIST.

Bmc Cancer

Belinsky, Martin G MG; Cai, Kathy Q KQ; Zhou, Yan Y; Luo, Biao B; Pei, Jianming J; Rink, Lori L; von Mehren, Margaret M

Publication Date: 2017-08-02

Variant appearance in text: KIT: W557_V559delinsF

PubMed Link: 28768491

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3499.pdf

View BVdb publication page

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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: KIT: 1670_1675delGGAAGG; W557_K558del

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

View BVdb publication page

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Effective Downsizing of a Large Oesophageal Gastrointestinal Stromal Tumour with Neoadjuvant Imatinib Enabling an Uncomplicated and without Tumour Rupture Laparoscopic-Assisted Ivor-Lewis Oesophagectomy.

Case Reports In Oncological Medicine

Neofytou, Kyriakos K; Costa Neves, Mafalda M; Giakoustidis, Alexandros A; Benson, Charlotte C; Mudan, Satvinder S

Publication Date: 2015

Variant appearance in text: KIT: 1670_1675del; Trp557_Val559delinsPhe

PubMed Link: 26075122

Variant Present in the following documents:

• Main text

View BVdb publication page

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Therapeutic Efficacy Assessment of CK6, a Monoclonal KIT Antibody, in a Panel of Gastrointestinal Stromal Tumor Xenograft Models.

Translational Oncology

Van Looy, Thomas T; Wozniak, Agnieszka A; Floris, Giuseppe G; Li, Haifu H; Wellens, Jasmien J; Vanleeuw, Ulla U; Sciot, Raf R; Debiec-Rychter, Maria M; Schöffski, Patrick P

Publication Date: 2015-04

Variant appearance in text: KIT: W557_V559delinsF

PubMed Link: 25926077

Variant Present in the following documents:

• Main text

View BVdb publication page

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Massively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy.

Bmc Cancer

Heydt, Carina C; Kumm, Niklas N; Fassunke, Jana J; Künstlinger, Helen H; Ihle, Michaela Angelika MA; Scheel, Andreas A; Schildhaus, Hans-Ulrich HU; Haller, Florian F; Büttner, Reinhard R; Odenthal, Margarete M; Wardelmann, Eva E; Merkelbach-Bruse, Sabine S

Publication Date: 2015-04-15

Variant appearance in text: KIT: W557_V559delinsF

PubMed Link: 25886408

Variant Present in the following documents:

• Main text
• 12885_2015_Article_1311.pdf

View BVdb publication page

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Frequent KIT mutations in human gastrointestinal stromal tumors.

Scientific Reports

Xu, Zhi Z; Huo, Xinying X; Tang, Chuanning C; Ye, Hua H; Nandakumar, Vijayalakshmi V; Lou, Feng F; Zhang, Dandan D; Jiang, Shouwen S; Sun, Hong H; Dong, Haichao H; Zhang, Guangchun G; Liu, Zhiyuan Z; Dong, Zhishou Z; Guo, Baishuai B; Yan, He H; Yan, Chaowei C; Wang, Lu L; Su, Ziyi Z; Li, Yangyang Y; Gu, Dongying D; Zhang, Xiaojing X; Wu, Xiaomin X; Wei, Xiaowei X; Hong, Lingzhi L; Zhang, Yangmei Y; Yang, Jinsong J; Gong, Yonglin Y; Tang, Cuiju C; Jones, Lindsey L; Huang, Xue F XF; Chen, Si-Yi SY; Chen, Jinfei J

Publication Date: 2014-08-01

Variant appearance in text: KIT: 1670_1675del

PubMed Link: 25080996

Variant Present in the following documents:

• srep05907-s1.pdf

View BVdb publication page

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Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.

Genes, Chromosomes & Cancer

Belinsky, Martin G MG; Rink, Lori L; Flieder, Douglas B DB; Jahromi, Mona S MS; Schiffman, Joshua D JD; Godwin, Andrew K AK; von Mehren, Margaret M

Publication Date: 2013-02

Variant appearance in text: KIT: Trp557_Val559delinsPhe

PubMed Link: 23109135

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors.

Bmc Medical Genetics

Merkelbach-Bruse, Sabine S; Dietmaier, Wolfgang W; Füzesi, Laszlo L; Gaumann, Andreas A; Haller, Florian F; Kitz, Julia J; Krohn, Antje A; Mechtersheimer, Gunhild G; Penzel, Roland R; Schildhaus, Hans-Ulrich HU; Schneider-Stock, Regine R; Simon, Ronald R; Wardelmann, Eva E

Publication Date: 2010-07-04

Variant appearance in text: KIT: 1670_1675del

PubMed Link: 20598160

Variant Present in the following documents:

• Main text
• 1471-2350-11-106.pdf

View BVdb publication page

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