Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.R348*
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PROC

NM_000312.4:p.R348*

Associated Papers

Novel insights into inherited protein C deficiency from an interactive PROC variant database.

Zhang S et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.

Wypasek E et al.

Polish Archives of Internal Medicine, 2017

Severe fetal ischaemic brain injury caused by homozygous protein C deficiency.

Stutterd C et al.

Prenatal Diagnosis, 2014

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

Rovida E et al.

Human Mutation, 2007

[Homozygous protein C deficiency can be detected by prenatal diagnosis].

Jerkeman A et al.

Lakartidningen, 1998

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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."