Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.F328L
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ALPL

NM_000478.6:p.F328L

Associated Papers

Newborn screening for hypophosphatasia: development of a high-throughput tissue nonspecific alkaline phosphatase activity assay using dried blood spots.

Noda Y et al.

Jbmr Plus, 2025

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

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

Michigami T et al.

Calcified Tissue International, 2020

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

Michigami T et al.

European Journal of Pediatrics, 2005

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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."