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: S716F; rs781153452

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

PI3K/AKT/mTOR pathway in pulmonary carcinoid tumours.

Oncology Letters

Zhang, Zixuan Z; Wang, Mengzhao M

Publication Date: 2017-08

Variant appearance in text: TSC2: Ser716Phe

PubMed Link: 28789352

Variant Present in the following documents:

• Main text
• ol-14-02-1373.pdf

View BVdb publication page