Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.R1068*
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TRIOBP

NM_001039141.3:p.R1068*

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

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

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

Zhou C et al.

Frontiers in Genetics, 2021

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.

Bitarafan F et al.

Journal of Clinical Laboratory Analysis, 2020

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

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

Behjati S et al.

Nature Communications, 2017

28643781 (PubMed )
Supplement: ncomms15936-s3.xlsx › Table_S2

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

Wesdorp M et al.

Hearing Research, 2017

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 TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Riazuddin S 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."