Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency

Abstract Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss. Evaluating the precise breakpoint is crucial from a diagnostic point of view, highlighting possible gene disruption and addressing to app...

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Prif Awduron:	V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini, M. Priolo, M. L. Dentici, R. Milone, A. Novelli
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	BMC 2024-03-01
Cyfres:	Human Genomics
Pynciau:	SETBP1 Optical genome mapping OGM Complex rearrangement Translocation RASopathy
Mynediad Ar-lein:	https://doi.org/10.1186/s40246-024-00600-0
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