Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.V431D
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ALPL

NM_000478.6:p.V431D

Associated Papers

N-linked glycosylation plays an essential role in the stability and function of tissue-nonspecific alkaline phosphatase.

Atanasova D et al.

The Journal of Biological Chemistry, 2025

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

Esmel-Vilomara R et al.

Journal of Clinical Research in Pediatric Endocrinology, 2020

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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."