Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.P1030fs
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TRIOBP

NM_001039141.3:p.P1030fs

Associated Papers

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

Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis.

Shang H et al.

Biomed Research International, 2018

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

Wesdorp M et al.

Hearing Research, 2017

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D et al.

Human Genetics, 2016

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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."