Associated Papers
A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.
Spivak I et al.
Immunogenetics, 2024
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Saettini F et al.
Blood, 2021
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