Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.V217A
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ALPL

NM_000478.6:p.V217A

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

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM5_ESM.xlsx › SD2

Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.

Yang H et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2013

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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."