Publications:

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

International Journal Of Molecular Sciences

Accetturo, Matteo M; Bartolomeo, Nicola N; Stella, Alessandro A

Publication Date: 2020-01-22

Variant appearance in text: NF1: Leu847Val

PubMed Link: 31979111

Variant Present in the following documents:

• Main text
• ijms-21-00721.pdf

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: rs753552408

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page