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Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.
Yano N, Chong PF, Kojima KK, Miyoshi T, Luqmen-Fatah A, Kimura Y, Kora K, Kayaki T, Maizuru K, Hayashi T, Yokoyama A, Ajiro M, Hagiwara M, Kondo T, Kira R, Takita J, Yoshida T. Yano N, et al. Among authors: kayaki t. J Med Genet. 2024 Jul 2:jmg-2024-110056. doi: 10.1136/jmg-2024-110056. Online ahead of print. J Med Genet. 2024. PMID: 38960580