Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N47I
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ALPL

NM_000478.6:p.N47I

Associated Papers

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

Farman MR et al.

Jbmr Plus, 2025

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

Martins L et al.

International Journal of Molecular Sciences, 2022

Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.

Xiao F et al.

Plos Computational Biology, 2022

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.

Michigami T et al.

Calcified Tissue International, 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."