Varaico: Literature-Extracted Genetic Variants

Gene:HPS6
Variant:p.L775V
Back to variants list

HPS6

NM_024747.6:p.L775V

Associated Papers

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Westbury SK et al.

Genome Medicine, 2015

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."