Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.T115I
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ALPL

NM_000478.6:p.T115I

Associated Papers

Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.

Shajani-Yi Z et al.

Bone, 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

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

Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Del Angel G et al.

Human Mutation, 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."