Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R220K
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APC

NM_000038.6:p.R220K

Associated Papers

Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism.

Chen X et al.

Annals of Hematology, 2024

Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency.

Martos L et al.

Thrombosis and Haemostasis, 2019

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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."