A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy

Ophthalmic Genet. 2017 Dec;38(6):587-589. doi: 10.1080/13816810.2017.1301965. Epub 2017 Apr 7.

Ga-In Lee¹, Chung Lee^{2

3}, Sam Subramanian^{1

4}, Nayoung K D Kim², Chang-Seok Ki⁵, Woong-Yang Park^{2

6}, Byoung Joon Kim⁷, Sang Jin Kim¹

¹ a Department of Ophthalmology , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.
² b Samsung Genome Institute , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.
³ c Department of Health Sciences and Technology , SAIHST, Sungkyunkwan University , Seoul , South Korea.
⁴ d Brian Allgood Army Community Hospital , Seoul , South Korea.
⁵ e Department of Laboratory Medicine and Genetics , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.
⁶ f Department of Molecular Cell Biology , Sungkyunkwan University School of Medicine , Seoul , South Korea.
⁷ g Department of Neurology , Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul , South Korea.

No abstract available

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