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: UPB1: S48P; rs373573512

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.

Biomed Research International

Yan, Lulu L; Shen, Ru R; Cao, Zongfu Z; Han, Chunxiao C; Zhang, Yuxin Y; Liu, Yingwen Y; Yang, Xiangchun X; Xie, Min M; Li, Haibo H

Publication Date: 2021

Variant appearance in text: UPB1: 142T>C; S48P

PubMed Link: 33628804

Variant Present in the following documents:

• Main text
• BMRI2021-6661860.pdf

View BVdb publication page