Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.G346Splc
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TYR

NM_000372.5:p.G346Splc

Associated Papers

Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.

Ionova S et al.

Pigment Cell & Melanoma Research, 2026

New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.

Fernández-Suárez E et al.

Npj Genomic Medicine, 2025

40603303 (PubMed )
Supplement: 41525_2025_500_MOESM2_ESM.xlsx › Supplementary_Data_1

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

Shchagina O et al.

Biomedicines, 2024

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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."