Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.G82R
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PTRH1

NM_001002913.3:p.G82R

Associated Papers

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.

Montero-Lopez R et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.

Kato M et al.

Journal of Bone and Mineral Metabolism, 2021

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

İnci A et al.

Journal of Bone and Mineral Metabolism, 2021

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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."