Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus

The impact of segmental duplications on human evolution and disease is only just starting to unfold, thanks to advancements in sequencing technologies that allow for their discovery and precise genotyping. The 15q11-q13 locus is a hotspot of recurrent copy number variation associated with Prader–Wil...

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Detalles Bibliográficos
Autores principales: Paparella, Annalisa, L’Abbate, Alberto, Palmisano, Donato, Chirico, Gerardina, Porubsky, David, Catacchio, Claudia R., Ventura, Mario, Eichler, Evan E., Maggiolini, Flavia A. M., Antonacci, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10648317/
https://www.ncbi.nlm.nih.gov/pubmed/37958807
http://dx.doi.org/10.3390/ijms242115818

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10648317/
https://www.ncbi.nlm.nih.gov/pubmed/37958807
http://dx.doi.org/10.3390/ijms242115818

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