Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA

Abstract Pathogenic variants in the OPN1LW/OPN1MW gene cluster are causal for a range of mild to severe visual impairments with color deficiencies. The widely utilized short-read next-generation sequencing (NGS) is inappropriate for the analysis of the OPN1LW/OPN1MW gene cluster and many patients wi...

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Главные авторы:	Lonneke Haer-Wigman, Amber den Ouden, Maria M. van Genderen, Hester Y. Kroes, Joke Verheij, Dzenita Smailhodzic, Attje S. Hoekstra, Raymon Vijzelaar, Jan Blom, Ronny Derks, Menno Tjon-Pon-Fong, Helger G. Yntema, Marcel R. Nelen, Lisenka E.L.M. Vissers, Dorien Lugtenberg, Kornelia Neveling
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Nature Portfolio 2022-11-01
Серии:	npj Genomic Medicine
Online-ссылка:	https://doi.org/10.1038/s41525-022-00334-9
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