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: HR: R518Q; rs774052279

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Frontiers In Genetics

Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H

Publication Date: 2022

Variant appearance in text: HR: 1553G>A; R518H

PubMed Link: 35910219

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 7

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Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.

Plos One

Pereira, Fernanda dos Santos Fdos S; Matte, Ursula U; Habekost, Clarissa Troller CT; de Castilhos, Raphael Machado RM; El Husny, Antonette Souto AS; Lourenço, Charles Marques CM; Vianna-Morgante, Angela M AM; Giuliani, Liane L; Galera, Marcial Francis MF; Honjo, Rachel R; Kim, Chong Ae CA; Politei, Juan J; Vargas, Carmen Regla CR; Jardim, Laura Bannach LB

Publication Date: 2012

Variant appearance in text: HR: Arg518Gln

PubMed Link: 22479560

Variant Present in the following documents:

• Main text
• pone.0034195.pdf

View BVdb publication page