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: TSC2: A1184V; rs1060500939

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Scientific Reports

Huang, Fuxue F; Li, Jingjing J; Wen, Xizhi X; Zhu, Baoyan B; Liu, Wei W; Wang, Jiuhong J; Jiang, Hang H; Ding, Ya Y; Li, Dandan D; Zhang, Xiaoshi X

Publication Date: 2022-06-10

Variant appearance in text: TSC2: 3551C>T; A1184V

PubMed Link: 35688842

Variant Present in the following documents:

• 41598_2022_13391_MOESM5_ESM.xlsx, sheet 2

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Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.

Cancers

Yepes, Sally S; Shah, Nirav N NN; Bai, Jiwei J; Koka, Hela H; Li, Chuzhong C; Gui, Songbai S; McMaster, Mary Lou ML; Xiao, Yanzi Y; Jones, Kristine K; Wang, Mingyi M; Vogt, Aurelie A; Zhu, Bin B; Zhu, Bin B; Hutchinson, Amy A; Yeager, Meredith M; Hicks, Belynda B; Carter, Brian B; Freedman, Neal D ND; Beane-Freeman, Laura L; Chanock, Stephen J SJ; Zhang, Yazhuo Y; Parry, Dilys M DM; Yang, Xiaohong R XR; Goldstein, Alisa M AM

Publication Date: 2021-05-30

Variant appearance in text: TSC2: Ala1184Val

PubMed Link: 34070849

Variant Present in the following documents:

• Main text
• cancers-13-02704.pdf

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The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study.

Clinics (Sao Paulo, Brazil)

da Costa, Leonardo Tomiatti LT; Dos Anjos, Laura Gonzalez LG; Kagohara, Luciane Tsukamoto LT; Torrezan, Giovana Tardin GT; De Paula, Claudia A Andrade CAA; Baracat, Edmund Chada EC; Carraro, Dirce Maria DM; Carvalho, Katia Candido KC

Publication Date: 2021

Variant appearance in text: TSC2: 3551C>T; Ala1184Val

PubMed Link: 33503190

Variant Present in the following documents:

• Main text

View BVdb publication page