Varaico: Literature-Extracted Genetic Variants

Gene:PTPRQ
Variant:p.V49_V53del0
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PTPRQ

NM_001145026.2:p.V49_V53del0

Associated Papers

Whole genome sequencing of 10 families with optic disc drusen.

Steensberg AH et al.

Ophthalmic Genetics, 2025

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Tropitzsch A et al.

Ear and Hearing, 0

34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_2
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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."