Associated Papers
Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature.
Sürücü Kara İ et al.
Molecular Syndromology, 2025
Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.
Yuan J et al.
Thrombosis Research, 2024
A novel mutation (p.Y24N) in NHP2 leads to idiopathic pulmonary fibrosis and lung carcinoma chronic obstructive lung disease by disrupting the expression and nucleocytoplasmic localization of NHP2.
Liu L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023
Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm.
Kwon SR et al.
Plos One, 2022
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Luo H et al.
European Journal of Human Genetics : Ejhg, 2021
33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4
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