Associated Papers
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Xu J et al.
European Journal of Neurology, 2024
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
Recurrent Early Pregnancy Loss and Congenital Thrombophilia: A Prospective Study.
Basha A et al.
Journal of Clinical Medicine, 2024
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
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Important roles of the human leukocyte antigen class I and II molecules and their associated genes in the autoimmune coagulation factor XIII deficiency via whole-exome sequencing analysis.
Osaki T et al.
Plos One, 2021
Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement.
Ma S et al.
Orphanet Journal of Rare Diseases, 2019
Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population.
Suvatha A et al.
Bmc Medical Genetics, 2018
Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss.
Arias-Sosa LA et al.
Journal of Assisted Reproduction and Genetics, 2018
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.
Katona É et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions.
Király R et al.
Amino Acids, 2013
Variation in 24 hemostatic genes and associations with non-fatal myocardial infarction and ischemic stroke.
Smith NL et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Joint linkage and association of six single-nucleotide polymorphisms in the factor XIII-A subunit gene point to V34L as the main functional locus.
de Lange M et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2006