Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.G27*
Back to variants list

ASPA

NM_000049.4:p.G27*

Associated Papers

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

The natural history of Canavan disease: 23 new cases and comparison with patients from literature.

Bley A et al.

Orphanet Journal of Rare Diseases, 2021

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."