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Article

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

Scientific reports - 27 Nov 2020

Numa Shogo, Oishi Akio, Higasa Koichiro, Oishi Maho, Miyata Manabu, Hasegawa Tomoko, Ikeda Hanako Ohashi, Otsuka Yuki, Matsuda Fumihiko, Tsujikawa Akitaka

Abstract excerpt

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 help the interpretation. However, as to the genetic screenings for patients with retinitis pigmentosa (RP) in...

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PMID: 33247286
DOI: 10.1038/s41598-020-77558-1
PMCID: PMC7695703

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