Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.M1V
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C2

NM_000063.6:p.M1V

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

Parafibromin Abnormalities in Ossifying Fibroma.

Costa-Guda J et al.

Journal of the Endocrine Society, 2021

RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Shi Y et al.

Pharmacogenomics and Personalized Medicine, 2021

Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.

de Oliveira-Junior EB et al.

Pediatric Blood & Cancer, 2015

The genetics of innate immunity sensors and human disease.

Pothlichet J et al.

International Reviews of Immunology, 2013

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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."