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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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Bibliografske podrobnosti
izdano v:Hum Genet
Main Authors: Gruber, Conor, Bogunovic, Dusan
Format: Artigo
Jezik:Inglês
Izdano: 2020
Teme:
Online dostop: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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