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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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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Gruber, Conor, Bogunovic, Dusan
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
Assuntos:
Acesso em linha: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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