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Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma.

作者信息

Poon Kok-Siong, Tan Karen Mei-Ling

机构信息

Department of Laboratory Medicine, National University Hospital Singapore, Singapore.

出版信息

Glob Med Genet. 2021 Aug 19;9(1):54-55. doi: 10.1055/s-0041-1733963. eCollection 2022 Mar.

Abstract
摘要

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本文引用的文献

1
Digenic Inheritance in Juvenile Open-Angle Glaucoma.
J Pediatr Genet. 2021 Feb 2;12(2):150-154. doi: 10.1055/s-0040-1722213. eCollection 2023 Jun.
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VarSome: the human genomic variant search engine.
Bioinformatics. 2019 Jun 1;35(11):1978-1980. doi: 10.1093/bioinformatics/bty897.
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Hum Mol Genet. 2017 Aug 1;26(R1):R21-R27. doi: 10.1093/hmg/ddx184.
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Revisiting the morbid genome of Mendelian disorders.
Genome Biol. 2016 Nov 24;17(1):235. doi: 10.1186/s13059-016-1102-1.
7
The inheritance of juvenile onset primary open angle glaucoma.
Clin Genet. 2017 Aug;92(2):134-142. doi: 10.1111/cge.12906. Epub 2017 Feb 16.
8
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
JAMA Ophthalmol. 2015 Jul;133(7):826-33. doi: 10.1001/jamaophthalmol.2015.0980.
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Digenic inheritance in medical genetics.
J Med Genet. 2013 Oct;50(10):641-52. doi: 10.1136/jmedgenet-2013-101713. Epub 2013 Jun 19.

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