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Li Fu, Yuka Yamamoto, Rie Seyama, Nana Matsuzawa, Mariko Nagaoka, Takashi Yao, Keisuke Hamada, Kazuhiro Ogata, Toshifumi Suzuki, Naomi Tsuchida, et al. Biallelic missense CEP55 variants cause prenatal MARCH syndrome. Journal of human genetics. 2024
Kazuki Watanabe, Tomoyasu Bunai, Masamune Sakamoto, Sayaka Ishigaki, Takamasa Iwakura, Naro Ohashi, Rie Wakatsuki, Akiyuki Takenouchi, Moriya Iwaizumi, Yoshihiro Hotta, et al. A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis. Journal of neurology. 2024
Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.
(American Society of Human Genetics 2014)