Publications:

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs6494005

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genetically Mediated Lipid Metabolism and Risk of Insulin Resistance: Insights from Mendelian Randomization Studies.

Journal Of Lipid And Atherosclerosis

Bu, So Young SY

Publication Date: 2019-09

Variant appearance in text: rs6494005

PubMed Link: 32821703

Variant Present in the following documents:

• Main text
• jla-8-132.pdf

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LIPC: 88+205A>G

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

Human Genomics

Moon, Sanghoon S; Lee, Young Y; Won, Sungho S; Lee, Juyoung J

Publication Date: 2018-11-01

Variant appearance in text: rs6494005

PubMed Link: 30382898

Variant Present in the following documents:

• Main text

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New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.

Scientific Reports

Lee, Ho-Sun HS; Kim, Yongkang Y; Park, Taesung T

Publication Date: 2018-04-09

Variant appearance in text: rs6494005

PubMed Link: 29632305

Variant Present in the following documents:

• Main text

View BVdb publication page

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On the analysis of a repeated measure design in genome-wide association analysis.

International Journal Of Environmental Research And Public Health

Lee, Young Y; Park, Suyeon S; Moon, Sanghoon S; Lee, Juyoung J; Elston, Robert C RC; Lee, Woojoo W; Won, Sungho S

Publication Date: 2014-11-28

Variant appearance in text: rs6494005

PubMed Link: 25464127

Variant Present in the following documents:

• Main text
• ijerph-11-12283.pdf

View BVdb publication page

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Diplotyper: diplotype-based association analysis.

Bmc Medical Genomics

Kim, Sunshin S; Park, KyungChae K; Shin, Chol C; Cho, Nam H NH; Ko, Jeong-Jae JJ; Koh, InSong I; Kwack, KyuBum K

Publication Date: 2013

Variant appearance in text: rs6494005

PubMed Link: 23819435

Variant Present in the following documents:

• Main text
• 1755-8794-6-S2-S5.pdf

View BVdb publication page

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