Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.P292S
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ALPL

NM_000478.6:p.P292S

Associated Papers

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia.

Sanabria-de la Torre R et al.

Frontiers in Endocrinology, 2022

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."