Associated Papers
Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.
Secolin R et al.
Frontiers in Genetics, 2021
33841501 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Data_2
Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.
Wang DD et al.
Investigative Ophthalmology & Visual Science, 2020
32176261 (PubMed )
Supplement: iovs-61-3-10_s002.xlsx › Sheet_1
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.
Fujinami K et al.
Ophthalmology, 2019
Dominant cystoid macular dystrophy associated with mutations in the RP1L1 gene.
Fu Y et al.
International Journal of Ophthalmology, 2019
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
Zobor D et al.
Investigative Ophthalmology & Visual Science, 2018
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Davidson AE et al.
Human Mutation, 2013
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