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: rs9332104

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_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: CYP2C9: 168+83T>C; rs9332104

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.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: rs9332104

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Genetic markers in the EET metabolic pathway are associated with outcomes in patients with aneurysmal subarachnoid hemorrhage.

Journal Of Cerebral Blood Flow And Metabolism : Official Journal Of The International Society Of Cerebral Blood Flow And Metabolism

Donnelly, Mark K MK; Conley, Yvette P YP; Crago, Elizabeth A EA; Ren, Dianxu D; Sherwood, Paula R PR; Balzer, Jeffery R JR; Poloyac, Samuel M SM

Publication Date: 2015-02

Variant appearance in text: rs9332104

PubMed Link: 25388680

Variant Present in the following documents:

• Main text

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Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Human Genomics

Matimba, Alice A; Del-Favero, Jurgen J; Van Broeckhoven, Christine C; Masimirembwa, Collen C

Publication Date: 2009-01

Variant appearance in text: rs9332104

PubMed Link: 19164093

Variant Present in the following documents:

• Main text
• 1479-7364-3-2-169.pdf

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