Varaico: Literature-Extracted Genetic Variants

Gene:PGAP2
Variant:p.T50M
Back to variants list

PGAP2

NM_014489.4:p.T50M

Associated Papers

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review.

Pan Y et al.

Frontiers in Pediatrics, 2024

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."