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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC26A3

Variant:p.Q190P

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SLC26A3

NM_000111.3:p.Q190P

hg38:chr7:107791049 T>G

Associated Papers

Kinetic characterization of hypophosphatasia mutations with physiological substrates.

Di Mauro S et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002

12162492 (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."