Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.K58_V59Splc
Back to variants list

ASS1

NM_054012.4:p.K58_V59Splc

Associated Papers

Mutation analysis in patients with N-acetylglutamate synthase deficiency.

Häberle J et al.

Human Mutation, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."