Associated Papers
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
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
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data
Recurrent germline mutations as genetic markers for aortic root dilatation in bicuspid aortic valve patients.
Wu B et al.
Heart and Vessels, 2021
Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies.
Pope DH et al.
Journal of Clinical Medicine, 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
TGFBR2 gene polymorphism is associated with ossification of the posterior longitudinal ligament.
Jekarl DW et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2013
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G et al.
Human Mutation, 2006
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.
Ki CS et al.
Clinical Genetics, 2005
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.
Watanabe Y et al.
Journal of Human Genetics, 2002
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