Associated Papers
Anticoagulant SERPINs: Endogenous Regulators of Hemostasis and Thrombosis.
Grover SP et al.
Frontiers in Cardiovascular Medicine, 2022
Plasma concentration of protein Z-dependent protease inhibitor and ZPI exon 3 mutations in preeclampsia.
Zhang P et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2021
Targeted next-generation sequencing reveals novel and known variants of thrombophilia associated genes in Saudi patients with venous thromboembolism.
Athar M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
Steinberg KM et al.
Scientific Reports, 2015
Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.
Hallengren E et al.
Plos One, 2015
26086970 (PubMed )
Supplement: pone.0128348.s002.xlsx › Sheet1
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-13.xlsx › S_Data_12
Two missense mutations identified in venous thrombosis patients impair the inhibitory function of the protein Z dependent protease inhibitor.
Young LK et al.
Thrombosis and Haemostasis, 2012
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