Varaico: Literature-Extracted Genetic Variants

Gene:C1S
Variant:p.G345R
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C1S

NM_001734.5:p.G345R

Associated Papers

Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.

Kang HR et al.

Allergy, 2006

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

Roche O et al.

Human Mutation, 2005

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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."