Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.T366N
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ALPL

NM_000478.6:p.T366N

Associated Papers

The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.

Yu Y et al.

Nature Communications, 2023

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

Xiao F et al.

Plos Computational Biology, 2022

35320273 (PubMed )
Supplement: pcbi.1010009.s009.xlsx › Sheet1

Genetic analysis of adults heterozygous for ALPL mutations.

Taillandier A et al.

Journal of Bone and Mineral Metabolism, 2018

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