Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Enhanced Learning and Memory in Patients with CRB1 Retinopathy.
Wright GA et al.
Genes, 2024
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.
Martin-Gutierrez MP et al.
Investigative Ophthalmology & Visual Science, 2022
Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy.
Chiou YR et al.
Ophthalmic Genetics, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy.
Huang L et al.
Molecular Medicine Reports, 2013
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.
Warwick AN et al.
Ophthalmic Genetics, 0
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