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Incomplete penetrance in primary immunodeficiency: a skeleton in the closet

Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although classically considered mendelian disorders with complete penetrance, we now understand that absent or partial clinical disease is often noted in in...

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Publicat a:Hum Genet
Autors principals: Gruber, Conor, Bogunovic, Dusan
Format: Artigo
Idioma:Inglês
Publicat: 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7275875/
https://ncbi.nlm.nih.gov/pubmed/32067110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-020-02131-9
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