Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: KIT: M535T; rs763411938

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Bmc Genomics

Anwar, Nida N; Memon, Faheem Ahmed FA; Shahid, Saba S; Shakeel, Muhammad M; Irfan, Muhammad M; Arshad, Aisha A; Naz, Arshi A; Ujjan, Ikram Din ID; Shamsi, Tahir T

Publication Date: 2021-12-16

Variant appearance in text: KIT: M535T

PubMed Link: 34915860

Variant Present in the following documents:

• 12864_2021_8221_MOESM2_ESM.xlsx, sheet 1
• 12864_2021_8221_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Bmc Genomics

Anwar, Nida N; Memon, Faheem Ahmed FA; Shahid, Saba S; Shakeel, Muhammad M; Irfan, Muhammad M; Arshad, Aisha A; Naz, Arshi A; Ujjan, Ikram Din ID; Shamsi, Tahir T

Publication Date: 2021-12-16

Variant appearance in text: KIT: M535T

PubMed Link: 34915860

Variant Present in the following documents:

• 12864_2021_8221_MOESM2_ESM.xlsx, sheet 1
• 12864_2021_8221_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: KIT: 1604T>C; Met535Thr; rs763411938

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s005.xlsx, sheet 1
• ct9-12-e00431-s006.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: KIT: 1604T>C; M535T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology

Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF

Publication Date: 2012-02

Variant appearance in text: KIT: M535T

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

View BVdb publication page

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