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: NAGS: 991C>T; Gln331Ter; rs1445639047

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Orphanet Journal Of Rare Diseases

Bijarnia-Mahay, Sunita S; Häberle, Johannes J; Jalan, Anil B AB; Puri, Ratna Dua RD; Kohli, Sudha S; Kudalkar, Ketki K; Rüfenacht, Véronique V; Gupta, Deepti D; Maurya, Deepshikha D; Verma, Jyotsna J; Shigematsu, Yosuke Y; Yamaguchi, Seiji S; Saxena, Renu R; Verma, Ishwar C IC

Publication Date: 2018-10-01

Variant appearance in text: NAGS: 991C>T; Gln331Ter

PubMed Link: 30285816

Variant Present in the following documents:

• Main text
• 13023_2018_908_MOESM1_ESM.xlsx, sheet 1
• 13023_2018_Article_908.pdf

View BVdb publication page