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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL11A1

Variant:p.Q1509R

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COL11A1

NM_001854.4:p.Q1509R

hg38:chr1:102888751 T>C

Associated Papers

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

Boysen KB et al.

Ophthalmic Genetics, 2024

38299479 (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."