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The ATRX splicing variant c.21-1G>A is asymptomatic.
Kojima K, Wada T, Shimbo H, Ikeda T, Jimbo EF, Saitsu H, Matsumoto N, Yamagata T. Kojima K, et al. Hum Genome Var. 2022 Sep 14;9(1):33. doi: 10.1038/s41439-022-00212-x. Hum Genome Var. 2022. PMID: 36104326 Free PMC article.
Novel CLTC variants cause new brain and kidney phenotypes.
Itai T, Miyatake S, Tsuchida N, Saida K, Narahara S, Tsuyusaki Y, Castro MAA, Kim CA, Okamoto N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Mizuguchi T, Matsumoto N. Itai T, et al. J Hum Genet. 2022 Jan;67(1):1-7. doi: 10.1038/s10038-021-00957-3. Epub 2021 Jul 7. J Hum Genet. 2022. PMID: 34230591
A novel LRP6 variant in a Japanese family with oligodontia.
Goto H, Kimura M, Machida J, Ota A, Nakashima M, Tsuchida N, Adachi J, Aoki Y, Tatematsu T, Takahashi K, Sana M, Nakayama A, Suzuki S, Nagao T, Matsumoto N, Tokita Y. Goto H, et al. Hum Genome Var. 2021 Jul 20;8(1):30. doi: 10.1038/s41439-021-00162-w. Hum Genome Var. 2021. PMID: 34285199 Free PMC article.