Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.V107I
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ALPL

NM_000478.6:p.V107I

Associated Papers

The ALPL gene variant project: results of the first 100 reclassified variants.

Farman MR et al.

Jbmr Plus, 2025

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 Effect of Asfotase Alfa on Plasma and Urine Pyrophosphate Levels and Pseudofractures in a Patient With Adult-Onset Hypophosphatasia.

Hidaka N et al.

Jbmr Plus, 2023

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.

Okawa R et al.

Plos One, 2019

Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.

Akiyama T et al.

Molecular Genetics and Metabolism, 2018

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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."