Varaico: Literature-Extracted Genetic Variants

Gene:PTPRQ
Variant:p.M1349T
Back to variants list

PTPRQ

NM_001145026.2:p.M1349T

Associated Papers

A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.

Zhou Y et al.

Clinical Genetics, 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

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Eisenberger T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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

Talebi F et al.

Cell Journal, 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

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."