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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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Numa, Shogo, Oishi, Akio, Higasa, Koichiro, Oishi, Maho, Miyata, Manabu, Hasegawa, Tomoko, Ikeda, Hanako Ohashi, Otsuka, Yuki, Matsuda, Fumihiko, Tsujikawa, Akitaka
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Acesso em linha: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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