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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALPL

Variant:p.V483M

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ALPL

NM_000478.6:p.V483M

hg38:chr1:21577520 G>A

Associated Papers

The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia.

Glotov OS et al.

International Journal of Molecular Sciences, 2024

39519277 (PubMed )

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

Glotov OS et al.

International Journal of Molecular Sciences, 2022

36361766 (PubMed )

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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."