Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.P1464_G1465Splc
Back to variants list

COL11A2

NM_080680.3:p.P1464_G1465Splc

Associated Papers

Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.

Micale L et al.

Genes, 2020

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

García-García G et al.

Genes, 2020

Comprehensive analysis of syndromic hearing loss patients in Japan.

Ideura M et al.

Scientific Reports, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."