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Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing

Abstract Introduction Partial gene duplications are structural variants that are challenging to interpret, particularly in the context of neurodevelopmental disorders. The ASH1L gene, associated with autism spectrum disorders and cognitive impairment, exemplifies the complexity of such variants. Thi...

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Principais autores: Grégoire Blavier, François Lecoquierre, Anne-Marie Guerrot, Géraldine Joly Hélas, Stéphane Rondeau, Anne Boland, Jean-François Deleuze, Gaël Nicolas, Pascal Chambon, Kévin Cassinari
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-12-01
Serier:Molecular Cytogenetics
Fag:
Partial duplication
Optical mapping
CGH array
Exome
Autism
ASH1L
Online adgang:https://doi.org/10.1186/s13039-025-00740-5
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