Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.R199*
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PROC

NM_000312.4:p.R199*

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

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Malhotra A et al.

Hgg Advances, 2025

40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses

Clinical genome sequencing in patients with suspected rare genetic disease in Peru.

Bazalar-Montoya J et al.

Npj Genomic Medicine, 2024

39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants

Identification of Targetable Lesions in Anaplastic Thyroid Cancer by Genome Profiling.

Ravi N et al.

Cancers, 2019

30909364 (PubMed )
Supplement: cancers-11-00402-s001.zip › cancers-454918-suppl-final › cancers-454918-Table-S2.xlsx › Sheet1

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.

Inoue H et al.

Pediatric Blood & Cancer, 2017

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

Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay.

Luan CJ et al.

Thrombosis Research, 2015

Genetic defects in Portuguese families with inherited protein C deficiency.

David D et al.

Thrombosis Research, 2011

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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."