Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A248V
Back to variants list

PLP1

NM_000533.5:p.A248V

Associated Papers

Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.

Gatticchi L et al.

The Journal of Biological Chemistry, 2025

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."