Varaico: Literature-Extracted Genetic Variants

Gene:COL11A1
Variant:p.T520delFs
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COL11A1

NM_080629.3:p.T520delFs

Associated Papers

Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.

Rad A et al.

Human Mutation, 2021

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Čopíková J et al.

Annals of Human Genetics, 2020

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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."