Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASS1

Variant:p.R146K

Back to variants list

ASS1

NM_054012.4:p.R146K

hg38:chr9:130466741 G>A

Associated Papers

mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.

Gurung S et al.

Science Translational Medicine, 2024

38198573 (PubMed )

Supplement: EMS193274-supplement-Supplemental_Matterial.docx

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."