Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.
作者信息
Jurkute Neringa, Majander Anna, Bowman Richard, Votruba Marcela, Abbs Stephen, Acheson James, Lenaers Guy, Amati-Bonneau Patrizia, Moosajee Mariya, Arno Gavin, Yu-Wai-Man Patrick
机构信息
NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK.
Department of Ophthalmology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
出版信息
Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24.
Abstract
摘要
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