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: CP: P196H; rs386134124

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Human Genetics

Phan, M M; Conte, F F; Khandelwal, K D KD; Ockeloen, C W CW; Bartzela, T T; Kleefstra, T T; van Bokhoven, H H; Rubini, M M; Zhou, H H; Carels, C E L CE

Publication Date: 2016-12

Variant appearance in text: CP: 587C>A; Pro196His

PubMed Link: 27699475

Variant Present in the following documents:

• 439_2016_1733_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page