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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL2A1

Variant:p.G1176_A1177Fs

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COL2A1

NM_001844.5:p.G1176_A1177Fs

hg38:chr12:47976030 GCA>TGCTAATGGTC

Associated Papers

A Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.

Bozkurt B et al.

Journal of Pediatric Ophthalmology and Strabismus, 0

38788144 (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."