Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.P1422P
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COL11A2

NM_080680.3:p.P1422P

Associated Papers

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

Clabout T et al.

Genes, 2022

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

Acke FR et al.

Molecular Genetics and Metabolism, 2014

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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."