Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G129R
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ALPL

NM_000478.6:p.G129R

Associated Papers

A novel dominant negative variant of ALPL induces hypophosphatasia.

Chen G et al.

Jbmr Plus, 2025

Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.

Xiao F et al.

Plos Computational Biology, 2022

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

Michigami T et al.

Calcified Tissue International, 2020

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
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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."