Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.T389insFs
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ALPL

NM_000478.6:p.T389insFs

Associated Papers

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

Kawashima H et al.

Jma Journal, 2025

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.

Xue H et al.

Scientific Reports, 2024

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.

Cinque L et al.

Frontiers in Endocrinology, 2023

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.

Jandl NM et al.

Calcified Tissue International, 2021

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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."