Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UPK2

Variant:p.S130G

Back to variants list

UPK2

NM_006760.4:p.S130G

hg38:chr11:118957638 A>G

Associated Papers

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Kim SY et al.

American Journal of Medical Genetics. Part A, 2016

27411168 (PubMed )

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."