Varaico: Literature-Extracted Genetic Variants

Gene:STRC
Variant:p.E880D
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STRC

NM_153700.2:p.E880D

Associated Papers

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

Chakchouk I et al.

European Journal of Human Genetics : Ejhg, 2019

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.

Vona B et al.

Clinical Genetics, 2015

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.

Francey LJ et al.

American Journal of Medical Genetics. Part A, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."