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: V1599M; rs772687631

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Safety of inactivated COVID-19 vaccine in tuberous sclerosis complex patients with epilepsy treated with rapamycin.

Seizure

Lu, Qian Q; Wang, Yang-Yang YY; Wang, Qiu-Hong QH; Tang, Li-Na LN; Yang, Xiao-Yan XY; Dun, Shuo S; Zou, Li-Ping LP

Publication Date: 2022-07

Variant appearance in text: TSC2: 4795G>A

PubMed Link: 35605444

Variant Present in the following documents:

• main.pdf

View BVdb publication page