Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity

OBJECTIVES: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants from whole-exome sequencing (WES) data comprises the gol...

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Detalles Bibliográficos
Autores principales: Ferreira, Cristina Santos, da Silva Francisco Junior, Ronaldo, Gerber, Alexandra Lehmkuhl, Guimarães, Ana Paula de Campos, Amendola, Flávia Anisio, Pinto-Mariz, Fernanda, de Souza, Monica Soares, Miranda, Patrícia Carvalho Batista, de Vasconcelos, Zilton Farias Meira, Goudouris, Ekaterini Simões, Vasconcelos, Ana Tereza Ribeiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Data Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10314602/
https://www.ncbi.nlm.nih.gov/pubmed/37391719
http://dx.doi.org/10.1186/s12863-023-01137-2

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