Varaico: Literature-Extracted Genetic Variants

Gene:COL11A1
Variant:p.G1507D
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COL11A1

NM_001854.4:p.G1507D

Associated Papers

Genetic Landscape of Robin Sequence: A Systematic Review.

van de Velde S et al.

Clinical Genetics, 2026

41077824 (PubMed )
Supplement: CGE-109-218-s001.pdf

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.

Kohmoto T et al.

Human Genome Variation, 2016

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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."