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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL2A1

Variant:p.R1123Q

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COL2A1

NM_033150.3:p.R1123Q

hg38:chr12:47975985 C>T

Associated Papers

Exome analyses unravel the genetic architecture of Mendelian dominant nonsyndromic orofacial clefts.

Zuo Y et al.

Genomics, 2025

40147726 (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."