Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.P888T
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COL11A2

NM_080680.3:p.P888T

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Bademci G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Chakchouk I et al.

Molecular Genetics and Genomics : Mgg, 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."