Associated Papers
Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1.
Jafari Khamirani H et al.
Immunological Investigations, 2022
35549617 (PubMed )
Supplement: supplement_1.zip › IIMM_2072736_-_SUPPLEMENTARY_TABLES › IIMM_2072736_-_Supp_Table_2.pdf
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
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