Associated Papers
IFNAR2 p.F8S Variant Associates with Severe COVID-19 and Adaptive Immune Cell Activation Modulation.
Malvestiti F et al.
International Journal of Molecular Sciences, 2026
41596638 (PubMed )
Supplement: ijms-27-00992-s001.zip › Malvestiti_et_al.__Supplementary_Table__y.xlsx › Table_S1
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Heterozygosity in factor XIII genes and the manifestation of mild inherited factor XIII deficiency.
Singh S et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val4
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
Chelleri C et al.
Human Mutation, 2023
40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F et al.
Plos One, 2022
35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants
Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta.
Holick MF et al.
Children (basel, Switzerland), 2021
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
Loules G et al.
Journal of Clinical Medicine, 2020
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Harmancı AS et al.
Nature Communications, 2017
28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D
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