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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL1A1

Variant:p.G266V

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COL1A1

NM_000088.4:p.G266V

hg38:chr17:50197017 C>A

Associated Papers

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Mumm S et al.

Bone, 2020

31472299 (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."