Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.R42S
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PROC

NM_000312.4:p.R42S

Associated Papers

Molecular basis of inherited protein C deficiency results from genetic variations in the signal peptide and propeptide regions.

Cao Q et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C.

Farajzadeh-Dehkordi M et al.

Plos One, 2023

Hepatic Necrosis Mimicking Infiltrative Masses in Acute Budd-Chiari Syndrome With Hereditary Protein C Deficiency.

Ananchuensook P et al.

Acg Case Reports Journal, 2022

Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene.

Muratsu J et al.

Case Reports in Medicine, 2013

Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations.

Takagi A et al.

International Journal of Hematology, 2009

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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."