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EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening

Next-generation sequencing (NGS) has greatly advanced the studies of causative genes and variants of inherited diseases. While it is sometimes challenging to determine the pathogenicity of identified variants in NGS, the American College of Medical Genetics and Genomics established the guidelines to...

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Detalles Bibliográficos
Autores principales:	Numa, Shogo, Oishi, Akio, Higasa, Koichiro, Oishi, Maho, Miyata, Manabu, Hasegawa, Tomoko, Ikeda, Hanako Ohashi, Otsuka, Yuki, Matsuda, Fumihiko, Tsujikawa, Akitaka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695703/ https://www.ncbi.nlm.nih.gov/pubmed/33247286 http://dx.doi.org/10.1038/s41598-020-77558-1

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