Varaico: Literature-Extracted Genetic Variants

Gene:COBL
Variant:p.S513F
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COBL

NM_015198.5:p.S513F

Associated Papers

Novel risk loci in LGI1-antibody encephalitis: genome-wide association study discovery and validation cohorts.

Binks SNM et al.

Brain : a Journal of Neurology, 2025

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Chelleri C et al.

Human Mutation, 2023

40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A0FW-01A.domain
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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."