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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL1A1

Variant:p.G986S

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COL1A1

NM_000088.4:p.G986S

hg38:chr17:50188992 C>T

Associated Papers

Osteogenesis Imperfecta with Pes Equinovarus: A Rare Combination and a Rare Col1a1 Variant.

Murat NÖ et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

41459638 (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."