Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G333Splc
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ALPL

NM_000478.6:p.G333Splc

Associated Papers

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

Michigami T et al.

Calcified Tissue International, 2020

A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.

Mentrup B et al.

Bone, 2017

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.

Whyte MP et al.

Bone, 2015

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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."