Varaico: Literature-Extracted Genetic Variants

Gene:PIGV
Variant:p.A165V
Back to variants list

PIGV

NM_017837.4:p.A165V

Associated Papers

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Horn D et al.

European Journal of Human Genetics : Ejhg, 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."