Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N47H
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ALPL

NM_000478.6:p.N47H

Associated Papers

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

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.

Martins L 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."