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: rs1222599742

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: HEXA: 947A>G; Tyr316Cys; rs1222599742

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Orphanet Journal Of Rare Diseases

Fernández-Marmiesse, Ana A; Morey, Marcos M; Pineda, Merce M; Eiris, Jesús J; Couce, Maria Luz ML; Castro-Gago, Manuel M; Fraga, Jose Maria JM; Lacerda, Lucia L; Gouveia, Sofia S; Pérez-Poyato, Maria Socorro MS; Armstrong, Judith J; Castiñeiras, Daisy D; Cocho, Jose A JA

Publication Date: 2014-04-25

Variant appearance in text: HEXA: 947A>G; Y316C

PubMed Link: 24767253

Variant Present in the following documents:

• 1750-1172-9-59.pdf

View BVdb publication page