• Mutation; HGNC; HGNC:427; ALK; Simple; p.Phe1174Leu (c.3520T>C); ClinVar=VCV000217849; Zygosity=Heterozygous (PubMed=18923523).
  

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PubMed=18534018; DOI=10.1186/1476-4598-7-50; PMCID=PMC2442611
Combaret V., Boyault S., Iacono I., Brejon S., Rousseau R., Puisieux A.
Effect of bortezomib on human neuroblastoma: analysis of molecular mechanisms involved in cytotoxicity.
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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)