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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P3H1

Variant:p.G212E

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P3H1

NM_022356.4:p.G212E

hg38:chr1:42759374 C>T

Associated Papers

The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

Zhang ZL et al.

Journal of Bone and Mineral Metabolism, 2012

21667357 (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."