Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G386D
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ALPL

NM_000478.6:p.G386D

Associated Papers

The ALPL gene variant project: results of the first 100 reclassified variants.

Farman MR et al.

Jbmr Plus, 2025

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

Impact of pediatric hypophosphatasia on behavioral health and quality of life.

Pierpont EI et al.

Orphanet Journal of Rare Diseases, 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."