Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A5
Variant:p.L278F
Back to variants list

SLC24A5

NM_205850.3:p.L278F

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

Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Shakil M et al.

Genes, 2022

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Chan HW et al.

Genes, 2021

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.

Chuan Z et al.

Current Eye Research, 2021

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Zhong Z et al.

Pigment Cell & Melanoma Research, 2019

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

Lin Y et al.

Molecular Genetics & Genomic Medicine, 2019

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Shahzad M et al.

Scientific Reports, 2017

Whole exome sequence analysis of serous borderline tumors of the ovary.

Boyd J et al.

Gynecologic Oncology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."