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Long-read sequencing resolves a complex structural variant in PRKN Parkinson’s disease

BACKGROUND: PRKN mutations are the most common cause of young onset and autosomal recessive Parkinson’s disease (PD). PRKN is located in FRA6E which is one of the common fragile sites in the human genome, making this region prone to structural variants. However, complex structural variants such as i...

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Detalles Bibliográficos
Autores principales:	Daida, Kensuke, Funayama, Manabu, Billingsley, Kimberley J, Malik, Laksh, Miano-Burkhardt, Abigail, Leonard, Hampton L., Makarious, Mary B., Iwaki, Hirotaka, Ding, Jinhui, Gibbs, J. Raphael, Ishiguro, Mayu, Yoshino, Hiroyo, Ogaki, Kotaro, Oyama, Genko, Nishioka, Kenya, Nonaka, Risa, Akamatsu, Wado, Blauwendraat, Cornelis, Hattori, Nobutaka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543050/ https://www.ncbi.nlm.nih.gov/pubmed/37790330 http://dx.doi.org/10.1101/2023.08.14.23293948

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