Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.R448*
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TRIOBP

NM_001039141.3:p.R448*

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S9

Targeted next-generation sequencing of deaf patients from Southwestern China.

Li Y et al.

Molecular Genetics & Genomic Medicine, 2021

A New Pathogenic Variant in the TRIOBP Associated with Profound Deafness Is Remediable with Cochlear Implantation.

Tekin AM et al.

Audiology & Neuro-otology, 2021

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

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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."