• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=26214590).
  
• Mutation; HGNC; HGNC:7765; NF1; Simple; p.Leu972Pro (c.2915T>C); ClinVar=VCV000656765; Zygosity=Unspecified (PubMed=26214590).
  

PubMed=22842228; DOI=10.1038/ng.2359; PMCID=PMC3432702
Krauthammer M., Kong Y., Ha B.H., Evans P., Bacchiocchi A., McCusker J.P., Cheng E., Davis M.J., Goh G., Choi M., Ariyan S., Narayan D., Dutton-Regester K., Capatana A., Holman E.C., Bosenberg M.W., Sznol M., Kluger H.M., Brash D.E., Stern D.F., Materin M.A., Lo R.S., Mane S.M., Ma S.-G., Kidd K.K., Hayward N.K., Lifton R.P., Schlessinger J., Boggon T.J., Halaban R.
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.
Nat. Genet. 44:1006-1014(2012)

PubMed=26214590; DOI=10.1038/ng.3361; PMCID=PMC4916843
Krauthammer M., Kong Y., Bacchiocchi A., Evans P., Pornputtapong N., Wu C., McCusker J.P., Ma S.-G., Cheng E., Straub R., Serin M., Bosenberg M.W., Ariyan S., Narayan D., Sznol M., Kluger H.M., Mane S.M., Schlessinger J., Lifton R.P., Halaban R.
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Nat. Genet. 47:996-1002(2015)