Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HGFAC

Variant:p.H129R

Back to variants list

HGFAC

NM_001528.4:p.H129R

hg38:chr4:3443137 A>G

Associated Papers

A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea.

Zhang XX et al.

World Journal of Pediatrics : Wjp, 2022

36123503 (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."