Varaico: Literature-Extracted Genetic Variants

Gene:PTPRQ
Variant:p.Y279*
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PTPRQ

NM_001145026.2:p.Y279*

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

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 a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.

Sang Q et al.

Molecular Genetics and Genomics : Mgg, 2015

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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."