Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.G1019R
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TRIOBP

NM_001039141.3:p.G1019R

Associated Papers

Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.

Kabahuma RI et al.

Molecular Genetics & Genomic Medicine, 2022

Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family.

Zhou C et al.

Frontiers in Genetics, 2021

The TRIOBP Isoforms and Their Distinct Roles in Actin Stabilization, Deafness, Mental Illness, and Cancer.

Zaharija B et al.

Molecules (basel, Switzerland), 2020

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.

Zhou B et al.

Bmc Medical Genetics, 2020

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.

Pollak A et al.

Bmc Medical Genetics, 2017

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Wesdorp M et al.

Hearing Research, 2017

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

Wu H et al.

Plos One, 2016

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene.

Fardaei M et al.

International Journal of Molecular and Cellular Medicine, 2015

Hereditary hearing loss: from human mutation to mechanism.

Lenz DR et al.

Hearing Research, 2011

Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.

Kitajiri S et al.

Cell, 2010

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.

Shahin H et al.

American Journal of Human Genetics, 2006

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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."