Figure 1.
Inheritance and pathogenicity of novel VWF variant p.(Cys1084Tyr). (A) Schematic representation of the VWF domain structure with subdomain architecture and critical functional sites. The location of the p.(Cys1084Tyr) variant in the C8-3 subdomain is shown. (B) Three-generation pedigree of a consanguineous family diagnosed with VWD. Homozygous individuals are represented by black symbols and heterozygous individuals by half-filled symbols. (C) Pathogenicity prediction for VWF variant p.(Cys1084Tyr).

Inheritance and pathogenicity of novel VWF variant p.(Cys1084Tyr). (A) Schematic representation of the VWF domain structure with subdomain architecture and critical functional sites. The location of the p.(Cys1084Tyr) variant in the C8-3 subdomain is shown. (B) Three-generation pedigree of a consanguineous family diagnosed with VWD. Homozygous individuals are represented by black symbols and heterozygous individuals by half-filled symbols. (C) Pathogenicity prediction for VWF variant p.(Cys1084Tyr).

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