Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.V177I
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TYR

NM_000372.5:p.V177I

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

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.

Seguy PH et al.

Investigative Ophthalmology & Visual Science, 2023

37707835 (PubMed )
Supplement: iovs-64-12-26_s001.xlsx › Feuil2

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

Mauri L et al.

Journal of Human Genetics, 2017

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