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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL12A1

Variant:p.P2968Q

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COL12A1

NM_004370.6:p.P2968Q

hg38:chr6:75090148 G>T

Associated Papers

COL9A1-related disorder with pectus carinatum, without epiphyseal dysplasia: case report and review of literature.

Olarewaju BA et al.

Skeletal Radiology, 2025

39636322 (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."