Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D378H
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ALPL

NM_000478.6:p.D378H

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

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Rush ET et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

34633109 (PubMed )
Supplement: JBMR-37-202-s001.xlsx › Supplemental_Table_2

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

Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

Wenkert D et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011

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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."