[BMJ] Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

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Yano N, Chong PF, Kojima KK, Miyoshi T, Luqman-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. Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome. J Med Genet. 2024 Sep 24;61(10):950-958. doi: 10.1136/jmg-2024-110056. PMID: 38960580.


https://jmg.bmj.com/content/61/10/950
https://pubmed.ncbi.nlm.nih.gov/38960580/
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