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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPRQ

Variant:p.Q1387delFs

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PTPRQ

NM_001145026.2:p.Q1387delFs

hg38:chr12:80549604 TC>T

Associated Papers

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing.

Bengl D et al.

Bmc Medical Genomics, 2025

40165225 (PubMed )

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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."