Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.R194C
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COL11A2

NM_080680.3:p.R194C

Associated Papers

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Diaz-Horta O et al.

Plos One, 2012

23226338 (PubMed )
Supplement: pone.0050628.s003.pdf
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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."