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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C6

Variant:p.R108L

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C6

NM_000065.5:p.R108L

hg38:chr5:41199890 C>A

Associated Papers

Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.

Kotwal A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020

31826312 (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."