• Mutation; HGNC; 7765; NF1; Simple; p.Ile679Aspfs*21 (c.2033dupC); ClinVar=VCV000141513; Zygosity=Unspecified (PubMed=26214590).
  

PubMed=21521745; DOI=10.1158/1541-7786.MCR-10-0512
Tworkoski K., Singhal G., Szpakowski S., Zito C.I., Bacchiocchi A., Muthusamy V., Bosenberg M.W., Krauthammer M., Halaban R., Stern D.F.
Phosphoproteomic screen identifies potential therapeutic targets in melanoma.
Mol. Cancer Res. 9:801-812(2011)

PubMed=21543894; DOI=10.4161/cc.10.11.15777
Chan E., Patel R., Nallur S., Ratner E., Bacchiocchi A., Hoyt K., Szpakowski S., Godshalk S., Ariyan S., Sznol M., Halaban R., Krauthammer M., Tuck D., Slack F.J., Weidhaas J.B.
MicroRNA signatures differentiate melanoma subtypes.
Cell Cycle 10:1845-1852(2011)

PubMed=21569352; DOI=10.1186/1471-2164-12-230
Parisi F., Ariyan S., Narayan D., Bacchiocchi A., Hoyt K., Cheng E., Xu F., Li P.-N., Halaban R., Kluger Y.
Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies.
BMC Genomics 12:230.1-230.14(2011)

PubMed=23012583
Parisi F., Micsinai M., Strino F., Ariyan S., Narayan D., Bacchiocchi A., Cheng E., Xu F., Li P.-N., Kluger H.M., Halaban R., Kluger Y.
Integrated analysis of tumor samples sheds light on tumor heterogeneity.
Yale J. Biol. Med. 85:347-361(2012)

PubMed=26214590; DOI=10.1038/ng.3361
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., 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)