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Showing 1 to 1 of 1 for “"c.8155+6T>A"”.
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Pathogenicity assessment of genetic variants in von Willebrand disease using quantitative, qualitative, and functional approaches
… VWD phenotype was homozygous for a rare PAVV, c.8155+6T>A, situated in the donor splice site of the penultimate exon-intron junction. Analysis of platelet mRNA demonstrated that c.8155+6T>A results in a transcript with a frameshift and premature termination codon (PTC). Evaluation of …