Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.P369L
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PROC

NM_000312.4:p.P369L

Associated Papers

Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism.

Van Laer C et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis.

Ozer L et al.

Clinical Rheumatology, 2025

Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience.

Van Laer C et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

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

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s002.pdf

Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study.

Fidalgo T et al.

European Journal of Haematology, 2015

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