Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D378G
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ALPL

NM_000478.6:p.D378G

Associated Papers

Prevalence of chondrocalcinosis and calcium pyrophosphate deposition disease in a cohort of adult patients with low alkaline phosphatase levels and a positive versus negative genetic ALPL study.

Tornero C et al.

Jbmr Plus, 2024

Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.

Tornero C et al.

Orphanet Journal of Rare Diseases, 2022

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

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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."