Publications:

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: HR: 352C>T; R118W

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1

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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics

Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM

Publication Date: 2020-07-18

Variant appearance in text: HR: 352C>T; Arg118Cys; rs371390059

PubMed Link: 32682410

Variant Present in the following documents:

• 12881_2020_1087_MOESM1_ESM.xlsx, sheet 6

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Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.

Journal Of Medical Genetics

Ortiz, Alberto A; Abiose, Ademola A; Bichet, Daniel G DG; Cabrera, Gustavo G; Charrow, Joel J; Germain, Dominique P DP; Hopkin, Robert J RJ; Jovanovic, Ana A; Linhart, Aleš A; Maruti, Sonia S SS; Mauer, Michael M; Oliveira, João P JP; Patel, Manesh R MR; Politei, Juan J; Waldek, Stephen S; Wanner, Christoph C; Yoo, Han-Wook HW; Warnock, David G DG

Publication Date: 2016-07

Variant appearance in text: HR: R118C

PubMed Link: 26993266

Variant Present in the following documents:

• Main text
• jmedgenet-2015-103486.pdf

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The RdgC protein employs a novel mechanism involving a finger domain to bind to circular DNA.

Nucleic Acids Research

Briggs, Geoffrey S GS; Yu, Jing J; Mahdi, Akeel A AA; Lloyd, Robert G RG

Publication Date: 2010-10

Variant appearance in text: HR: R118C

PubMed Link: 20525790

Variant Present in the following documents:

• gkq509.pdf

View BVdb publication page