Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D60E
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ALPL

NM_000478.6:p.D60E

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

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."