Publications:

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: KIF1A: E239K; rs1231775359

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: KIF1A: E239K

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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Clonal replacement of tumor-specific T cells following PD-1 blockade.

Nature Medicine

Yost, Kathryn E KE; Satpathy, Ansuman T AT; Wells, Daniel K DK; Qi, Yanyan Y; Wang, Chunlin C; Kageyama, Robin R; McNamara, Katherine L KL; Granja, Jeffrey M JM; Sarin, Kavita Y KY; Brown, Ryanne A RA; Gupta, Rohit K RK; Curtis, Christina C; Bucktrout, Samantha L SL; Davis, Mark M MM; Chang, Anne Lynn S ALS; Chang, Howard Y HY

Publication Date: 2019-08

Variant appearance in text: KIF1A: 715G>A; E239K

PubMed Link: 31359002

Variant Present in the following documents:

• NIHMS1531727-supplement-2.xlsx, sheet 2

View BVdb publication page