Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.V412D
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TMC1

NM_138691.3:p.V412D

Associated Papers

Mutation-agnostic RNA interference with engineered replacement rescues Tmc1-related hearing loss.

Iwasa Y et al.

Life Science Alliance, 2023

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.

Nishio SY et al.

Human Genetics, 2022

Preventing autosomal-dominant hearing loss in Bth mice with CRISPR/CasRx-based RNA editing.

Zheng Z et al.

Signal Transduction and Targeted Therapy, 2022

Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss.

Botto C et al.

Frontiers in Genome Editing, 2021

Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction.

Hastings ML et al.

Hearing Research, 2020

Targeted Allele Suppression Prevents Progressive Hearing Loss in the Mature Murine Model of Human TMC1 Deafness.

Yoshimura H et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2019

Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.

Wang H et al.

Molecular Genetics & Genomic Medicine, 2018

Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents.

Gao X et al.

Nature, 2018

Gene Therapy in Mouse Models of Deafness and Balance Dysfunction.

Wang L et al.

Frontiers in Molecular Neuroscience, 2018

RNA Interference Prevents Autosomal-Dominant Hearing Loss.

Shibata SB et al.

American Journal of Human Genetics, 2016

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Nakanishi H et al.

Auris, Nasus, Larynx, 2014

Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene.

Manji SS et al.

The American Journal of Pathology, 2012

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

Vreugde S et al.

Nature Genetics, 2002

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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."