Varaico: Literature-Extracted Genetic Variants

Gene:TRRAP
Variant:p.R171C
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TRRAP

NM_001375524.1:p.R171C

Associated Papers

Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss.

Nagy N et al.

International Journal of Molecular Sciences, 2025

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Involvement of the zebrafish trrap gene in craniofacial development.

Suzuki T et al.

Scientific Reports, 2021

Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss.

Xia W et al.

Clinical Genetics, 2019

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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."