Associated Papers
Immune dysregulation caused by homozygous mutations in CBLB.
Janssen E et al.
The Journal of Clinical Investigation, 2022
36006710 (PubMed )
Supplement: jci-132-154487-s100.pdf
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed
Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk.
Seidelmann SB et al.
Journal of the American College of Cardiology, 2018
Molecular basis for glucose-galactose malabsorption.
Wright EM et al.
Cell Biochemistry and Biophysics, 2002
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