Varaico: Literature-Extracted Genetic Variants

Gene:PTPRQ
Variant:p.Y30*
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PTPRQ

NM_001145026.2:p.Y30*

Associated Papers

Whole Exome Sequencing Identifies Novel Splicing Variants in the PTPRQ Gene and Their Mechanisms in Autosomal Recessive Non-Syndromic Hearing Loss.

Zhang K et al.

Journal of Otology, 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

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