Varaico: Literature-Extracted Genetic Variants

Gene:ECHDC2
Variant:p.M118I
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ECHDC2

NM_001198961.2:p.M118I

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc5.xlsx › All

Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations.

Brown D et al.

Nature Communications, 2017

28429735 (PubMed )
Supplement: ncomms14944-s4.xlsx › Patient__6_91
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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."