Publications:

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: rs11631342

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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Hepatic lipase (LIPC) sequencing in individuals with extremely high and low high-density lipoprotein cholesterol levels.

Plos One

Pirim, Dilek D; Bunker, Clareann H CH; Hokanson, John E JE; Hamman, Richard F RF; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2020

Variant appearance in text: rs11631342

PubMed Link: 33326441

Variant Present in the following documents:

• Main text
• pone.0243919.pdf

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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+64A>G

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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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: rs11631342

PubMed Link: 30382898

Variant Present in the following documents:

• Main text

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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: rs11631342

PubMed Link: 23819435

Variant Present in the following documents:

• Main text
• 1755-8794-6-S2-S5.pdf

View BVdb publication page