Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.P310insFs
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TYRP1

NM_000550.3:p.P310insFs

Associated Papers

Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.

Xu B et al.

Alternative Therapies in Health and Medicine, 2023

Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle.

Caivio-Nasner S et al.

Tropical Animal Health and Production, 2021

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.

Chuan Z et al.

Current Eye Research, 2021

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.

Lin Y et al.

Molecular Genetics & Genomic Medicine, 2019

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

Yang Q et al.

Bmc Medical Genetics, 2019

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

Mauri L et al.

Journal of Human Genetics, 2017

Tyrosinase gene mutations in the Chinese Han population with OCA1.

Liu N et al.

Genetics Research, 2014

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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."