Varaico: Literature-Extracted Genetic Variants

Gene:COBL
Variant:p.E480D
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COBL

NM_015198.5:p.E480D

Associated Papers

Dual phenotypes in recurrent astrocytoma, IDH-mutant; coexistence of IDH-mutant and IDH-wildtype components: a case report with genetic and epigenetic analysis.

Yamaguchi J et al.

Acta Neuropathologica Communications, 2024

39456052 (PubMed )
Supplement: 40478_2024_1879_MOESM3_ESM.xlsx › NGY-R2A

Comprehensive molecular analysis of genomic profiles and PD-L1 expression in lung adenocarcinoma with a high-grade fetal adenocarcinoma component.

Suzuki M et al.

Translational Lung Cancer Research, 2021

33889510 (PubMed )
Supplement: tlcr-10-03-1292-supplementary.pdf

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Ozgencil M et al.

Plos One, 2021

34855882 (PubMed )
Supplement: pone.0260852.s015.xlsx › iWT2_2
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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."