Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM3
Variant:p.E177K
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PDLIM3

NM_014476.6:p.E177K

Associated Papers

High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the ALPL c.1559del Gene Variant.

Kawashima H et al.

Jma Journal, 2025

Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.

Orimo H et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001

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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."