Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.H454R
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ALPL

NM_000478.6:p.H454R

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_

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-2_Final_021921.xlsx › Table_S3.2

Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Del Angel G et al.

Human Mutation, 2020

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.

Reibel A et al.

Orphanet Journal of Rare Diseases, 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."