Publications:

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: NF1: 1775G>A; S592N

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs760256377

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

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Monozygotic twins discordant for neurofibromatosis 1.

American Journal Of Medical Genetics. Part A

Kaplan, Lee L; Foster, Rosemary R; Shen, Yiping Y; Parry, Dilys M DM; McMaster, Mary L ML; O'Leary, Melanie Collins MC; Gusella, James F JF

Publication Date: 2010-03

Variant appearance in text: NF1: Ser592Asn

PubMed Link: 20186797

Variant Present in the following documents:

• Main text

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