Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations-Reference-Cited by-同舟云学术

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

Published:2018-12-21 Issue: Volume:9 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Morgan Anna,Lenarduzzi Stefania,Cappellani Stefania,Pecile Vanna,Morgutti Marcello,Orzan Eva,Ghiselli Sara,Ambrosetti Umberto,Brumat Marco,Gajendrarao Poornima,La Bianca Martina,Faletra Flavio,Grosso Enrico,Sirchia Fabio,Sensi Alberto,Graziano Claudio,Seri Marco,Gasparini Paolo,Girotto Giorgia

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference72 articles.

1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr. Protoc. Hum. Genet.,2013

2. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss;Alford;Genet. Med.,2014

3. A novel TECTA mutation causes ARNSHL;Asgharzade;Int. J. Pediatr. Otorhinolaryngol.,2017

4. TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss;Battelino;Eur. Arch. Otorhinolaryngol.,2016

5. Structure of the Rigor actin-tropomyosin-myosin complex;Behrmann;Cell,2012

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