Associated Papers
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
40442269 (PubMed )
Supplement: 41598_2025_3492_MOESM1_ESM.xlsx › cohort_description
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TGFBR2
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
Association between fibrosis-related gene polymorphism and long-term allograft outcome in renal transplant recipients.
Yin Y et al.
Bmc Medical Genomics, 2023
37867197 (PubMed )
Supplement: 12920_2023_1686_MOESM3_ESM.xlsx › Sheet1
Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.
Yang H et al.
Orphanet Journal of Rare Diseases, 2020
A Single-Nucleotide Polymorphism (rs1131243) of the Transforming Growth Factor Beta Signaling Pathway Contributes to Risk of Acute Rejection in Chinese Renal Transplant Recipients.
Zheng M et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
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