Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.Y101*
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ALPL

NM_000478.6:p.Y101*

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

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM5_ESM.xlsx › SD2

Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.

Alonso N et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020

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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."