Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.Q226L
Back to variants list

PROC

NM_000312.4:p.Q226L

Associated Papers

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

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

Wypasek E et al.

Polish Archives of Internal Medicine, 2017

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

Rovida E et al.

Human Mutation, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."