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 Jul 2:jmg-2024-110056. doi: 10.1136/jmg-2024-110056. Online ahead of print. ABSTRACT BACKGROUND: SINE-VNTR-Alu (SVA) retrotransposons move from one genomic location to another in …