Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan
Kaoru Fujinami, Koji M. Nishiguchi, Akio Oishi, Masato Akiyama, Yasuhiro Ikeda, Yoshihiro Hotta, Hiroyuki Kondo, Akiko Maeda, Masahiro Miyake, Mineo Kondo, Taiji Sakamoto
Topics & Concepts
Medical geneticsPopulationContext (archaeology)Mendelian inheritancePrecision medicineMedicineComputer scienceGeneticsPathologyBiologyPaleontologyEnvironmental healthGeneRetinal Development and DisordersGenomics and Rare DiseasesCRISPR and Genetic Engineering