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Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of these “mendelizing” disease traits represent phenoty...

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Detalles Bibliográficos
Autores principales:	Chinn, Ivan K., Sanders, Robert P., Stray-Pedersen, Asbjørg, Coban-Akdemir, Zeynep H., Kim, Vy Hong-Diep, Dadi, Harjit, Roifman, Chaim M., Quigg, Troy, Lupski, James R., Orange, Jordan S., Hanson, I. Celine
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2017
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445153/ https://www.ncbi.nlm.nih.gov/pubmed/28603521 http://dx.doi.org/10.3389/fimmu.2017.00576

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