Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.W29R
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ALPL

NM_000478.6:p.W29R

Associated Papers

The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.

Yu Y et al.

Nature Communications, 2023

37422472 (PubMed )
Supplement: 41467_2023_39833_MOESM4_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

Clinical and genetic characteristics of hypophosphatasia in Chinese children.

Liu M et al.

Orphanet Journal of Rare Diseases, 2021

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.

Mao X et al.

Bmc Pediatrics, 2019

A novel missense mutation in the ALPL gene causes dysfunction of the protein.

Chen B et al.

Molecular Medicine Reports, 2017

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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."