Publications:

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: ACADS: 1138C>G; Arg380Gly; rs28940875

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28940875

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page