Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.S294N
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PROC

NM_000312.4:p.S294N

Associated Papers

Ser252Asn Mutation Introduces a New N-Linked Glycosylation Site and Causes Type IIb Protein C Deficiency.

Zhou S et al.

Thrombosis and Haemostasis, 2024

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5
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