VWF c.5842+5G>A

Variant ID: 12-6120778-C-T

NM_000552.3(VWF):c.5842+5G>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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.

Haematologica
Hampshire, Daniel J DJ; Burghel, George J GJ; Goudemand, Jenny J; Bouvet, Laura C S LC; Eikenboom, Jeroen C J JC; Schneppenheim, Reinhard R; Budde, Ulrich U; Peake, Ian R IR; Goodeve, Anne C AC; ,
Publication Date: 2010-12

Variant appearance in text: VWF: 5842+5G>A
PubMed Link: 20851871
Variant Present in the following documents:
  • Main text
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