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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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Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Numa, Shogo, Oishi, Akio, Higasa, Koichiro, Oishi, Maho, Miyata, Manabu, Hasegawa, Tomoko, Ikeda, Hanako Ohashi, Otsuka, Yuki, Matsuda, Fumihiko, Tsujikawa, Akitaka
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7695703/
https://ncbi.nlm.nih.gov/pubmed/33247286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-77558-1
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