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: NOTCH1: S966R; rs1475254769

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine

Sakaguchi, Narumi N; Suyama, Mikita M

Publication Date: 2022-03-18

Variant appearance in text: NOTCH1: 2898C>G; Ser966Arg; rs1475254769

PubMed Link: 35304488

Variant Present in the following documents:

• 41525_2022_294_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Somatic Mutations and Genetic Variants of NOTCH1 in Head and Neck Squamous Cell Carcinoma Occurrence and Development.

Scientific Reports

Liu, Yu-Fan YF; Chiang, Shang-Lun SL; Lin, Chien-Yu CY; Chang, Jan-Gowth JG; Chung, Chia-Min CM; Ko, Albert Min-Shan AM; Lin, You-Zhe YZ; Lee, Chien-Hung CH; Lee, Ka-Wo KW; Chen, Mu-Kuan MK; Hua, Chun-Hung CH; Tsai, Ming-Hsui MH; Chen, Yuan-Chien YC; Ko, Ying-Chin YC

Publication Date: 2016-04-01

Variant appearance in text: NOTCH1: S966R

PubMed Link: 27035284

Variant Present in the following documents:

• Main text
• srep24014.pdf

View BVdb publication page