Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D458V
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ALPL

NM_000478.6:p.D458V

Associated Papers

Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.

Calmarza P et al.

Journal of Bone and Mineral Metabolism, 2023

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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."