Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.H415_Q418del0
Back to variants list

MFSD8

NM_001371596.2:p.H415_Q418del0

Associated Papers

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.

Stiburkova B et al.

European Journal of Human Genetics : Ejhg, 2013

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."