Varaico: Literature-Extracted Genetic Variants

Gene:COL11A1
Variant:p.I519V
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COL11A1

NM_001854.4:p.I519V

Associated Papers

Genetic etiology of non-syndromic hearing loss in Europe.

Del Castillo I et al.

Human Genetics, 2022

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Adeyemo A et al.

European Journal of Human Genetics : Ejhg, 2022

Infant hearing loss: from diagnosis to therapy Official Report of XXI Conference of Italian Society of Pediatric Otorhinolaryngology.

Paludetti G et al.

Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-facciale, 2012

Impact of gene patents and licensing practices on access to genetic testing for hearing loss.

Chandrasekharan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

[Pay attention to gene diagnosis of hereditary hearing loss].

Chen XW

Zhonghua Yi Xue Za Zhi, 2007

Deafness genes and their diagnostic applications.

Cryns K et al.

Audiology & Neuro-otology, 0

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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."