Varaico: Literature-Extracted Genetic Variants

Gene:C8A
Variant:p.R552G
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C8A

NM_000562.3:p.R552G

Associated Papers

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.

Nishimura S et al.

Journal of Clinical Immunology, 2021

33083971 (PubMed )
Supplement: 10875_2020_885_MOESM1_ESM.docx

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Jiang L et al.

Plos Genetics, 2016

27093186 (PubMed )
Supplement: pgen.1005895.s019.xlsx › Sheet1
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