Varaico: Literature-Extracted Genetic Variants

Gene:PTPRQ
Variant:p.D497E
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PTPRQ

NM_001145026.2:p.D497E

Associated Papers

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Fehrmann MLA et al.

Journal of the Association for Research in Otolaryngology : Jaro, 2025

Novel PTPRQ variants associated with hearing loss in a Chinese family PTPRQ variants in Chinese hearing loss.

Hou Y et al.

Frontiers in Genetics, 2024

Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.

Qin Y et al.

Journal of Clinical Laboratory Analysis, 2023

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the PTPRQ Gene Causing Autosomal Recessive Hearing Loss in a Chinese Family.

Jin Y et al.

Frontiers in Genetics, 2022

Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.

Talebi F et al.

Cell Journal, 2018

Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene.

Guevar J et al.

Journal of Veterinary Internal Medicine, 2018

Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.

Wu X et al.

Neural Plasticity, 2018

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.

Sakuma N et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.

Gao X et al.

Plos One, 2015

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

Schraders M et al.

American Journal of Human Genetics, 2010

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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."