Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.I161F
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TYRP1

NM_000550.3:p.I161F

Associated Papers

Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.

Majid I et al.

International Journal of Molecular Sciences, 2024

39519200 (PubMed )
Supplement: ijms-25-11649-s001.zip › ijms-3279427-supplementary.pdf

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

Ma L et al.

Frontiers in Genetics, 2021

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Yang Q et al.

Bmc Medical Genetics, 2019

Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

Oetting WS et al.

Human Mutation, 1999

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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."