Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.Q286_S287insA
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TYR

NM_000372.5:p.Q286_S287insA

Associated Papers

Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.

Woertz EN et al.

Investigative Ophthalmology & Visual Science, 2024

38441889 (PubMed )
Supplement: iovs-65-3-3_s001.pdf

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N et al.

Frontiers in Genetics, 2020

32849781 (PubMed )
Supplement: Data_Sheet_2.docx

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."