Varaico: Literature-Extracted Genetic Variants

Gene:PTPRQ
Variant:p.K1981Splc
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PTPRQ

NM_001145026.2:p.K1981Splc

Associated Papers

Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.

Xiao Y et al.

Genetic Testing and Molecular Biomarkers, 2025

Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.

Sun Y et al.

Medicine, 2019

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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."