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GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we present an update of testing results in a cohort of Arg...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Buonfiglio, Paula, Bruque, Carlos D., Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7589744/
https://ncbi.nlm.nih.gov/pubmed/33096615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11101233
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