Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.A115V
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PLP1

NM_000533.5:p.A115V

Associated Papers

Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells.

Orimo H et al.

Molecular Genetics and Metabolism, 2008

Hypophosphatasia.

Mornet E

Orphanet Journal of Rare Diseases, 2007

Kinetic characterization of hypophosphatasia mutations with physiological substrates.

Di Mauro S et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002

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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."