Publications:

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: rs756780735

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: NF1: Q1272H

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s008.xlsx, sheet 1

View BVdb publication page