Associated Papers
Clinical application of whole exome sequencing for recurrent early pregnancy loss.
Liu C et al.
Asian Journal of Surgery, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1
[Clinical manifestations and gene analysis of 18 cases of hereditary protein S deficiency].
Zhang DL et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Distinctive regional-specific PROS1 mutation spectrum in Southern China.
Chan NCN et al.
Journal of Thrombosis and Thrombolysis, 2018
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism.
Komwilaisak P et al.
Pediatric Blood & Cancer, 2017
[Pedigree survey in a family with hereditary protein S deficiency].
Huang KY et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2016
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation.
Leung TW et al.
Neurology, 2010
Select a paper to view details