Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.T115_A116ins0
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ALPL

NM_000478.6:p.T115_A116ins0

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

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.

Kishnani PS et al.

American Journal of Medical Genetics. Part A, 2024

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Tenorio J et al.

American Journal of Medical Genetics. Part A, 2017

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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."