title: A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.
authors.affiliation: a Department of Ophthalmology , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.
authors.forename: Ga-In
authors.initials: GI
authors.lastname: Lee
authors.affiliation: b Samsung Genome Institute , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.|c Department of Health Sciences and Technology , SAIHST, Sungkyunkwan University , Seoul , South Korea.
authors.forename: Chung
authors.initials: C
authors.lastname: Lee
authors.affiliation: a Department of Ophthalmology , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.|d Brian Allgood Army Community Hospital , Seoul , South Korea.
authors.forename: Sam
authors.initials: S
authors.lastname: Subramanian
authors.affiliation: b Samsung Genome Institute , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.
authors.forename: Nayoung K D
authors.initials: NKD
authors.lastname: Kim
authors.affiliation: e Department of Laboratory Medicine and Genetics , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: b Samsung Genome Institute , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.|f Department of Molecular Cell Biology , Sungkyunkwan University School of Medicine , Seoul , South Korea.
authors.forename: Woong-Yang
authors.initials: WY
authors.lastname: Park
authors.affiliation: g Department of Neurology , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.
authors.forename: Byoung Joon
authors.initials: BJ
authors.lastname: Kim
authors.affiliation: a Department of Ophthalmology , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.
authors.forename: Sang Jin
authors.identifier: 0000-0002-1502-3155
authors.initials: SJ
authors.lastname: Kim
mesh_terms: D044466:Asian People / Q000235:genetics; D002648:Child; D000071700:Cone-Rod Dystrophies / Q000175:diagnosis / Q000235:genetics*; D004596:Electroretinography; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D007723:Korea; D020125:Mutation, Missense; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D020691:rab GTP-Binding Proteins / Q000235:genetics*
chemical_list: C503250:RAB28 protein, human; D020691:rab GTP-Binding Proteins