Associated Papers
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
Phenotypic and genetic analyses of four cases of coagulation factor XII deficiency.
Li S et al.
Hematology (amsterdam, Netherlands), 2022
Mutant plasminogen in hereditary angioedema is bypassing FXII/kallikrein to generate bradykinin.
Hintze S et al.
Frontiers in Physiology, 2022
Mechanism, Functions, and Diagnostic Relevance of FXII Activation by Foreign Surfaces.
Konrath S et al.
Hamostaseologie, 2021
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.
Spedicati B et al.
European Journal of Human Genetics : Ejhg, 2021
Transposon clusters as substrates for aberrant splice-site activation.
Alvarez MEV et al.
Rna Biology, 2021
32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf
[Phenotypic and genetic analysis of two pedigrees affected with hereditary coagulation FXII deficiency].
Li S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
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