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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL1A1

Variant:p.G1031_K1033del3

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COL1A1

NM_000088.4:p.G1031_K1033del3

hg38:chr17:50188740 ACCTTGGCGC>A

Associated Papers

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Essawi O et al.

Molecular Genetics & Genomic Medicine, 2018

29150909 (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."