Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.P313_D326del14
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USH2A

NM_206933.4:p.P313_D326del14

Associated Papers

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.

Gug M et al.

International Journal of Molecular Sciences, 2025

41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

Sansović I et al.

Croatian Medical Journal, 2024

Genetic etiology of non-syndromic hearing loss in Europe.

Del Castillo I et al.

Human Genetics, 2022

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

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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."