Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.N342S
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TYR

NM_000372.5:p.N342S

Associated Papers

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

Ionova S et al.

Pigment Cell & Melanoma Research, 2026

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.

Loftus SK et al.

Human Mutation, 2021

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Mauri L et al.

Journal of Human Genetics, 2017

Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Gargiulo A et al.

Investigative Ophthalmology & Visual Science, 2011

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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."