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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL1A1

Variant:p.P1074delFs

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COL1A1

NM_000088.4:p.P1074delFs

hg38:chr17:50188134 CG>C

Associated Papers

Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.

Xi L et al.

Journal of Bone and Mineral Metabolism, 2021

33070251 (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."