Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G397Splc
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ALPL

NM_000478.6:p.G397Splc

Associated Papers

Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?

Masi L et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2021

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

Mentrup B et al.

Bone, 2017

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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."