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: rs289740

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: CETP: 1322-288C>T; rs289740

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs289740

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians.

Plos One

Ganesan, Mala M; Nizamuddin, Sheikh S; Katkam, Shiva Krishna SK; Kumaraswami, Konda K; Hosad, Uday Kumar UK; Lobo, Limmy Loret LL; Kutala, Vijay Kumar VK; Thangaraj, Kumarasamy K

Publication Date: 2016

Variant appearance in text: rs289740

PubMed Link: 27768712

Variant Present in the following documents:

• Main text
• pone.0164151.pdf

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Resequencing of the CETP gene in American whites and African blacks: Association of rare and common variants with HDL-cholesterol levels.

Metabolism: Clinical And Experimental

Pirim, Dilek D; Wang, Xingbin X; Niemsiri, Vipavee V; Radwan, Zaheda H ZH; Bunker, Clareann H CH; Hokanson, John E JE; Hamman, Richard F RF; Barmada, M Michael MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2016-01

Variant appearance in text: rs289740

PubMed Link: 26683795

Variant Present in the following documents:

• Main text

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