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
CABP4 mutation in mice shows alteration in protein expression level and neuron discharge frequency.
Shi GA et al.
Translational Pediatrics, 2024
Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.
Yang Y et al.
Frontiers in Neurology, 2024
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
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2
A novel missense creatine mutant of CaBP4, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4.
Guo Y et al.
Translational Pediatrics, 2022
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 and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Wang S et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2016
[Genetic factors and a polygenic model of Alzheimer's disease].
Rogaev EI
Genetika, 1999
[Analysis of the association of inherited predisposition to breast cancer with c-Ha-ras-1 oncogene alleles].
Nefedov MD et al.
Genetika, 1990
[Genetic polymorphism of transferrins and postalbumins in cattle].
Fomicheva II
Genetika, 1973
Select a paper to view details