5 research outputs found
Prevalence of congenital HI caused by biallelic <i>GJB2</i> pathogenic variants in the Sakha Republic.
<p>Note: The territory of the Sakha Republic is shown in blue (bottom map). HI rates were calculated per 10,000 people, and appropriate data are presented only for the districts and cities of the Sakha Republic with population more than 10,000. Detailed data are presented in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0156300#pone.0156300.s001" target="_blank">S1 Table</a>.</p
Carrier frequency of the major pathogenic variants of the <i>GJB2</i> gene in the Yakut and Russian control samples.
<p>Carrier frequency of the major pathogenic variants of the <i>GJB2</i> gene in the Yakut and Russian control samples.</p
Spectrum and Frequency of the <i>GJB2</i> Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic) - Fig 1
<p>Detected pathogenic and benign variants in the <i>GJB2</i> gene in patients (A) and control groups (B). Note: Pathogenic variants are shown in red, benign variants are shown in blue; *āunclassified variant, b.p.ābase pair.</p
Characteristics of the patients and control groups.
<p>Characteristics of the patients and control groups.</p