Associated Papers
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
Zobor D et al.
Investigative Ophthalmology & Visual Science, 2018
Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family.
Nejat F et al.
Iranian Journal of Medical Sciences, 2018
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
Fujinami K et al.
Investigative Ophthalmology & Visual Science, 2016
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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