Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.V130insFs
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ALPL

NM_000478.6:p.V130insFs

Associated Papers

Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

Tornero C et al.

Orphanet Journal of Rare Diseases, 2020

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Tenorio J et al.

American Journal of Medical Genetics. Part A, 2017

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.

Riancho-Zarrabeitia L et al.

European Journal of Internal Medicine, 2016

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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."