Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.R1078C
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TRIOBP

NM_001039141.3:p.R1078C

Associated Papers

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

Clabout T et al.

Genes, 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

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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."