Publications:

Functional characterization of ABCA4 genetic variants related to Stargardt disease.

Scientific Reports

Kim, Bo Min BM; Song, Hyo Sook HS; Kim, Jin-Young JY; Kwon, Eun Young EY; Ha, Seung Yeon SY; Kim, Minsuk M; Choi, Ji Ha JH

Publication Date: 2022-12-24

Variant appearance in text: ABCA4: Thr1117Ala

PubMed Link: 36566289

Variant Present in the following documents:

• Main text
• 41598_2022_Article_26912.pdf
• 41598_2022_26912_MOESM1_ESM.pdf

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Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics

Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG

Publication Date: 2021-03-10

Variant appearance in text: ABCA4: T1117A

PubMed Link: 33691693

Variant Present in the following documents:

• 12920_2021_874_MOESM1_ESM.xlsx, sheet 1

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Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.

Molecular Vision

Joo, Kwangsic K; Seong, Moon-Woo MW; Park, Kyu Hyung KH; Park, Sung Sup SS; Woo, Se Joon SJ

Publication Date: 2019

Variant appearance in text: STGD: 3349A>G

PubMed Link: 31814693

Variant Present in the following documents:

• Main text
• mv-v25-679.pdf

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Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Journal Of Korean Medical Science

Kim, Min Seok MS; Joo, Kwangsic K; Seong, Moon Woo MW; Kim, Man Jin MJ; Park, Kyu Hyung KH; Park, Sung Sup SS; Woo, Se Joon SJ

Publication Date: 2019-06-02

Variant appearance in text: ABCA4: 3349A>G

PubMed Link: 31144483

Variant Present in the following documents:

• Main text
• jkms-34-e161.pdf

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