Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1GA spli...
Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1GA splice site variant of the GJB2 gene
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Publisher
Public Library of Science
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Language
English
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Public Library of Science
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Contents
The audiological features of hearing loss (HL) in patients with autosomal recessive deafness type 1A (DFNB1A) caused by splice site variants of the GJB2 gene are less studied than those of patients with other variants of this gene. In this study, we present the audiological features of DFNB1A in a large cohort of 134 patients with the homozygous sp...
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Full title
Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1GA splice site variant of the GJB2 gene
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TN_cdi_gale_infotracmisc_A813222255
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A813222255
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0309439
