Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.M1R
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C2

NM_000063.6:p.M1R

Associated Papers

Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.

Yang D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Crystal structure of the catalytic domain of matrix metalloproteinase-1 in complex with the inhibitory domain of tissue inhibitor of metalloproteinase-1.

Iyer S et al.

The Journal of Biological Chemistry, 2007

The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.

James PD et al.

Blood, 2007

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.

Pros E et al.

Human Mutation, 2006

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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."