Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.Q348*
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PC

NM_001040716.2:p.Q348*

Associated Papers

Clinical and laboratory characteristics of children with venous thromboembolism and protein C-deficiency: an observational Israeli-German cohort study.

Limperger V et al.

British Journal of Haematology, 2014

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."