Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.A437V
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ALPL

NM_000478.6:p.A437V

Associated Papers

Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States.

Rush ET et al.

Molecular Genetics and Metabolism, 2025

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

Glotov OS et al.

International Journal of Molecular Sciences, 2022

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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."