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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 2"
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Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
Genet Test Mol Biomarkers. 2014 Sep;18(9):658-61. doi: 10.1089/gtmb.2014.0121. Epub 2014 Jul 25.
Genet Test Mol Biomarkers. 2014.
PMID: 25062256
Free PMC article.
Clinical Trial.
Genetic variants account for more than half of the cases with congenital or prelingual onset hearing loss. Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common subgroup. ...We detected large homozygous deletions in STRC and …
Genetic variants account for more than half of the cases with congenital or prelingual onset hearing loss. Autosomal recessive …
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E.
García-García G, et al.
Genes (Basel). 2020 Dec 7;11(12):1467. doi: 10.3390/genes11121467.
Genes (Basel). 2020.
PMID: 33297549
Free PMC article.
Clinical Trial.
Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogenic variants in 26 different genes, 15 with A …
Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal …
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