Deletions and duplications of single-base pairs typically arise during homologous recombination and cause diseases. But what happens when a mutation occurs over multiple genes? Deletions involve ...

Quiver Bioscience Inc. is collaborating with the Dup15q Alliance to advance an antisense oligonucleotide (ASO) therapeutic ...

World Down Syndrome Day 2025 promotes awareness, inclusion, and stronger support systems to empower individuals with Down ...

whereas the larger inv dup (15), on the right, is associated with an abnormal phenotype (the central two are normal chromosome 15). d) The inv dup (22) (right) is associated with the cat eye syndrome.

The DNA-based NF1/SPRED1-only by NGS involves sequencing as well as deletion/duplication analysis of the entire coding NF1/SPRED1 regions plus the alternatively spliced NF1 exons 9br, 23a and 48a (67 ...