Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.N384K
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PROC

NM_000312.4:p.N384K

Associated Papers

Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes.

Ma Y et al.

Thrombosis and Haemostasis, 2024

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.

Zhang Z et al.

Medicine, 2022

Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism.

Xie W et al.

Journal of Vascular Surgery Cases and Innovative Techniques, 2017

Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.

Rovida E et al.

Human Mutation, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."