Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.N519D
Back to variants list

TRIOBP

NM_001039141.3:p.N519D

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

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

Li Y et al.

Molecular Genetics & Genomic Medicine, 2021

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.

Wang J et al.

Scientific Reports, 2021

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.

Chen S et al.

Genetic Testing and Molecular Biomarkers, 2016

Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.

Svidnicki MC et al.

Bmc Medical Genetics, 2015

Impact of gene patents and licensing practices on access to genetic testing for hearing loss.

Chandrasekharan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."