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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPN6

Variant:p.I482F

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PTPN6

NM_002831.6:p.I482F

hg38:chr12:6960102 A>T

Associated Papers

New variants in the Enpp1 and Ptpn6 genes cause low BMD, crystal-related arthropathy, and vascular calcification.

Babij P et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009

19419305 (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."