Associated Papers
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
37882226 (PubMed )
Supplement: MGG3-12-e2297-s001.xlsx › Sheet1
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
Precise in vivo functional analysis of DNA variants with base editing using ACEofBASEs target prediction.
Cornean A et al.
Elife, 2022
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.
Zhong Z et al.
Frontiers in Genetics, 2022
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
Yang Q et al.
Bmc Medical Genetics, 2019
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.
Qiu B et al.
Genetic Testing and Molecular Biomarkers, 2018
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.
Wei AH et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2015
Computational screening of disease-associated mutations in OCA2 gene.
Kamaraj B et al.
Cell Biochemistry and Biophysics, 2014
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Wei A et al.
Journal of Dermatological Science, 2011
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
Kerr R et al.
Human Mutation, 2000
Select a paper to view details