Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.M519V
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MITF

NM_001354604.2:p.M519V

Associated Papers

Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.

Rajput K et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2024

Genetic etiology of non-syndromic hearing loss in Europe.

Del Castillo I et al.

Human Genetics, 2022

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

Wu H et al.

Plos One, 2016

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

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.

Jacobs HT et al.

European Journal of Human Genetics : Ejhg, 2005

Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.

Nye JS et al.

Teratology, 2000

Neural crest anomaly syndromes in children with spina bifida.

Nye JS et al.

Teratology, 1999

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.

Estivill X et al.

American Journal of Human Genetics, 1998

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."