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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC39A4

Variant:p.V217A

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SLC39A4

NM_130849.4:p.V217A

hg38:chr8:144415244 A>G

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

35498405 (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."