Varaico: Literature-Extracted Genetic Variants

Gene:COL11A1
Variant:p.M1_E2insFs
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COL11A1

NM_001854.4:p.M1_E2insFs

Associated Papers

A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.

Lauritsen KF et al.

European Journal of Medical Genetics, 2017

A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.

Kohmoto T et al.

Human Genome Variation, 2015

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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."