• Mutation; HGNC; HGNC:427; ALK; Simple; p.Phe1174Val (c.3520T>G); ClinVar=VCV000065670; Zygosity=Unspecified (PubMed=18923523; PubMed=30459281).
  

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Combaret V., Turc-Carel C., Thiesse P., Rebillard A.-C., Frappaz D., Haus O., Philip T., Favrot M.-C.
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DOI=10.1007/0-306-46872-7_2
Thiele C.J.
Neuroblastoma.
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PubMed=18923523; DOI=10.1038/nature07398
Janoueix-Lerosey I., Lequin D., Brugieres L., Ribeiro A., de Pontual L., Combaret V., Raynal V., Puisieux A., Schleiermacher G., Pierron G., Valteau-Couanet D., Frebourg T., Michon J., Lyonnet S., Amiel J., Delattre O.
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.
Nature 455:967-970(2008)

PubMed=20160348; DOI=10.1172/JCI41013; PMCID=PMC2827960
Bouzas-Rodriguez J., Cabrera J.R., Delloye-Bourgeois C., Ichim G., Delcros J.-G., Raquin M.-A., Rousseau R., Combaret V., Benard J., Tauszig-Delamasure S., Mehlen P.
Neurotrophin-3 production promotes human neuroblastoma cell survival by inhibiting TrkC-induced apoptosis.
J. Clin. Invest. 120:850-858(2010)

PubMed=30459281; DOI=10.1126/scisignal.aar5680
Van den Eynden J., Umapathy G., Ashouri A., Cervantes-Madrid D., Szydzik J., Ruuth K., Koster J., Larsson E., Guan J.-K., Palmer R.H., Hallberg B.
Phosphoproteome and gene expression profiling of ALK inhibition in neuroblastoma cell lines reveals conserved oncogenic pathways.
Sci. Signal. 11:eaar5680.1-eaar5680.16(2018)