Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.A51S
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ALPL

NM_000478.6:p.A51S

Associated Papers

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

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

Michigami T et al.

Calcified Tissue International, 2020

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.

Whyte MP et al.

Bone, 2015

Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.

Whyte MP et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009

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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."