Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.H482Q
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ALPL

NM_000478.6:p.H482Q

Associated Papers

Newborn screening for hypophosphatasia: development of a high-throughput tissue nonspecific alkaline phosphatase activity assay using dried blood spots.

Noda Y et al.

Jbmr Plus, 2025

Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.

Amri Y et al.

Molecular Genetics and Genomics : Mgg, 2024

Six ALPL gene variants in five children with hypophosphatasia.

Su N et al.

Annals of Translational Medicine, 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."