Varaico: Literature-Extracted Genetic Variants

Gene:COL11A1
Variant:p.P887S
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COL11A1

NM_001854.4:p.P887S

Associated Papers

Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.

Drackley A et al.

Ophthalmology. Retina, 2025

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP et al.

European Journal of Human Genetics : Ejhg, 2010

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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."