Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant.
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ABSTRACT:
SUBMITTER: Gonzalez-Sanchez L
PROVIDER: S-EPMC11295456 | biostudies-literature | 2024 Nov
REPOSITORIES: biostudies-literature
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Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant.
González-Sánchez Laura L Agudo Ana Mei AM Van Den Rym Anne A Begiristain María Isabel MI Saizar Alazne A Pérez de Diego Rebeca R Nozal Pilar P López-Lera Alberto A López-Trascasa Margarita M Corvillo Fernando F
Genes & diseases 20231004 6
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