Associated Papers
Identification of a novel CABP4 frameshift variant and a secondary USH2A missense variant in congenital cone-rod synaptic disorder.
Mousawi Z et al.
Ophthalmic Genetics, 2026
Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families.
El Khair K et al.
Molecular Biology Reports, 2025
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
PENTOSAN POLYSULFATE SODIUM (ELMIRON) MACULOPATHY: A Genetic Perspective.
Kalaw FGP et al.
Retina (philadelphia, Pa.), 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
37240262 (PubMed )
Supplement: ijms-24-08915-s001.zip › ijms-2363585-supplementary.pdf
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F et al.
Acta Ophthalmologica, 2021
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.
Chen ZH et al.
Oncotarget, 2017
Clinical characterisation of the CABP4-related retinal phenotype.
Khan AO et al.
The British Journal of Ophthalmology, 2013
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.
Aldahmesh MA et al.
Molecular Vision, 2010
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Littink KW et al.
Investigative Ophthalmology & Visual Science, 2009
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
Zeitz C et al.
American Journal of Human Genetics, 2006
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