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Variant Enrichment Analysis to Explore Pathways Functionality in Complex Autoinflammatory Skin Disorders through Whole Exome Sequencing Analysis

The challenge of unravelling the molecular basis of multifactorial disorders nowadays cannot rely just on association studies searching for potential causative variants shared by groups of patients and not present in healthy individuals; indeed, association studies have as a main limitation the lack...

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Detalles Bibliográficos
Autores principales: Brandão, Lucas André Cavalcanti, de Moura, Ronald Rodrigues, Marzano, Angelo Valerio, Moltrasio, Chiara, Tricarico, Paola Maura, Crovella, Sergio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8877088/
https://www.ncbi.nlm.nih.gov/pubmed/35216413
http://dx.doi.org/10.3390/ijms23042278