Varaico: Literature-Extracted Genetic Variants

Gene:PYROXD2
Variant:p.V283I
Back to variants list

PYROXD2

NM_032709.3:p.V283I

Associated Papers

Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.

Shah MH et al.

Molecular Vision, 2014

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."