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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MASP2

Variant:p.C366Y

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MASP2

NM_006610.4:p.C366Y

hg38:chr1:11030873 C>T

Associated Papers

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

Roche O et al.

Human Mutation, 2005

15971231 (PubMed )

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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."