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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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Bibliografski detalji
Izdano u:Sci Rep
Glavni autori: Numa, Shogo, Oishi, Akio, Higasa, Koichiro, Oishi, Maho, Miyata, Manabu, Hasegawa, Tomoko, Ikeda, Hanako Ohashi, Otsuka, Yuki, Matsuda, Fumihiko, Tsujikawa, Akitaka
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2020
Teme:
Online pristup: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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