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
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.
Kantaputra P et al.
Genes, 2022
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y et al.
Nature Communications, 2019
30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PA
Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.
Unknown Author
Nature Genetics, 2016
27399967 (PubMed )
Supplement: NIHMS793138-supplement-Suppl_tables.xlsx › S9b
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