Key result
Homozygous 23-bp EPCR insertion is compatible with life and shows ~1.7-fold higher mRNA expression.
Case Report (n=1)
Effect estimate: 1.7-fold higher
This case report describes the Endothelial Protein C Receptor gene expression in a female patient with a homozygous EPCR 23-bp insertion.
Compatible with life in one case; leaves open the variant's thrombotic impact and requires larger studies before any clinical inference.
Endothelial Protein C Receptor gene Expression in a Female with Homozygous EPCR gene 23-bp Insertion Homozigot EPCR 23-baz çifti Insersiyona Sahip Kadın Bireyde Endotelyal Protein C Reseptörü Gen Ekspresyon Seviyesi
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Karabıyık et al. (2011) conducted a case report in Homozygous EPCR gene 23-bp insertion (n=1). Homozygous EPCR gene 23-bp insertion vs. Control with normal EPCR gene was evaluated on EPCR mRNA expression level (1.7-fold higher). The patient with a homozygous 23-bp insertion of the EPCR gene had an EPCR mRNA expression level 1.7-fold higher than the control, demonstrating that this mutation is compatible with life.
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