Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
39386107 (PubMed )
Supplement: mmc2.xlsx › standard
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.
Khan S et al.
Bmc Research Notes, 2021
33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_
C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients.
Dias A et al.
Annals of Clinical and Translational Neurology, 2019
How gene polymorphisms can influence clinical response and toxicity following R-CHOP therapy in patients with diffuse large B cell lymphoma.
Falduto A et al.
Blood Reviews, 2017
Fc-gamma receptor 3A polymorphism predicts the incidence of urinary tract infection in kidney-transplant recipients.
Das LK et al.
Human Immunology, 2017
Fc-Gamma Receptor Polymorphisms Predispose Patients to Infectious Complications After Liver Transplantation.
Shimizu S et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2016
Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus.
Liphaus BL et al.
Clinics (sao Paulo, Brazil), 2015
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