p.P2063S: a neutral VWF variant masquerading as a mutation

समान संसाधन

• The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance
  द्वारा: Mufti, Ahmad H., और अन्य
  प्रकाशित: (2018)
• Effect of the VWF promoter (GT)(n) repeat and SNP c.-2527G>A on circulating VWF levels under normal conditions
  द्वारा: HICKSON, N, और अन्य
  प्रकाशित: (2011)
• Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort
  द्वारा: Hampshire, Daniel J., और अन्य
  प्रकाशित: (2010)
• Enhanced VWF biosynthesis and elevated plasma VWF due to a natural variant in the murine Vwf gene
  द्वारा: Lemmerhirt, Heidi L., और अन्य
  प्रकाशित: (2006)
• In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion
  द्वारा: Cartwright, A., और अन्य
  प्रकाशित: (2016)