Associated Papers
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
Segura-Tudela A et al.
Journal of Clinical Immunology, 2024
38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1
RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.
Wang Q et al.
Clinical Genetics, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.
Günther C et al.
The Journal of Clinical Investigation, 2015
The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease.
Reijns MA et al.
The Journal of Biological Chemistry, 2011
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