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Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

Genes - 30 Apr 2021

Kim Yoon-Jeon, Kim You-Na, Yoon Young-Hee, Seo Eul-Ju, Seo Go-Hun, Keum Changwon, Lee Beom-Hee, Lee Joo-Yong

Abstract excerpt

We conducted targeted next-generation sequencing (TGS) and/or whole exome sequencing (WES) to assess the genetic profiles of clinically suspected retinitis pigmentosa (RP) in the Korean population. A cohort of 279 unrelated Korean patients with clinically diagnosed RP and available family members underwent molecular analyses using TGS consisting of 88 RP-causing genes and/or WES with clinical variant...

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PMID: 33946315
DOI: 10.3390/genes12050675
PMCID: PMC8146864

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Source receipt: pubmed, retrieved 7 Sept 2026.

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