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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCNH

Variant:p.G225_I226insFs

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CCNH

NM_001239.4:p.G225_I226insFs

hg38:chr5:87404858 T>TTG

Associated Papers

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

İnci A et al.

Journal of Bone and Mineral Metabolism, 2021

33404770 (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."