Associated Papers
A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa.
Elasal MA et al.
Genes, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.
Smirnov VM et al.
Investigative Ophthalmology & Visual Science, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona B et al.
Human Genetics, 2021
The molecular basis of retinal dystrophies in pakistan.
Khan MI et al.
Genes, 2014
24705292 (PubMed )
Supplement: genes-05-00176-s001.pdf
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
García-García G et al.
Molecular Vision, 2012
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
Khan MI et al.
Ophthalmology, 2011
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0
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