Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G397D
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ALPL

NM_000478.6:p.G397D

Associated Papers

Evaluation of Low Alkaline Phosphatase Levels in Clinical Practice: Implications for Diagnosing Hypophosphatasia.

Buyukyilmaz G et al.

Calcified Tissue International, 2025

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.

Xiang J et al.

Orphanet Journal of Rare Diseases, 2024

39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1

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

Mutational and biochemical findings in adults with persistent hypophosphatasemia.

McKiernan FE et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017

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

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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."