Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.P289L
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PROC

NM_000312.4:p.P289L

Associated Papers

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

Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.

Vrtel P et al.

Diagnostics (basel, Switzerland), 2022

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