Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E230K
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NF1

NM_001042492.3:p.E230K

Associated Papers

Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.

Shain AH et al.

Nature Genetics, 2015

26343386 (PubMed )
Supplement: NIHMS710819-supplement-1.pdf

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

Nikolaev SI et al.

Nature Genetics, 2011

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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."