Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome

BACKGROUND: 22q11.2 Deletion Syndrome (22q11DS) is a genetic disorder characterized by the deletion of adjacent genes at a location specified as q11.2 of chromosome 22, resulting in an array of clinical phenotypes including autistic spectrum disorder, schizophrenia, congenital heart defects, and imm...

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Detalles Bibliográficos
Autores principales: Shin, Woosub, Kutmon, Martina, Mina, Eleni, van Amelsvoort, Therese, Evelo, Chris T, Ehrhart, Friederike
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594698/
https://www.ncbi.nlm.nih.gov/pubmed/37872602
http://dx.doi.org/10.1186/s13023-023-02953-6

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