• Mutation; HGNC; 12687; VHL; Simple; c.341-2A>T; ClinVar=VCV002034796; Zygosity=Unspecified; Note=Splice acceptor mutation (PubMed=7915601).
  

PubMed=7915601; DOI=10.1038/ng0594-85
Gnarra J.R., Tory K., Weng Y.-K., Schmidt L.S., Wei M.H., Li H., Latif F., Liu S., Chen F., Duh F.-M., Lubensky I.A., Duan D.-S.R., Florence C., Pozzatti R., Walther M.M., Bander N.H., Grossman H.B., Brauch H., Pomer S., Brooks J.D., Isaacs W.B., Lerman M.I., Zbar B., Linehan W.M.
Mutations of the VHL tumour suppressor gene in renal carcinoma.
Nat. Genet. 7:85-90(1994)

PubMed=8086765; DOI=10.1007/BF00252823
Gross A.J., Wolff M., Fandrey J., Miersch W.-D.E., Dieckmann K.-P., Jelkmann W.
Prevalence of paraneoplastic erythropoietin production by renal cell carcinomas.
Clin. Investig. 72:337-340(1994)

PubMed=10190320; DOI=10.1007/s004320050252
Frank M.H., Pomer S.
Interferon alpha2b differentially affects proliferation of two human renal cell carcinoma cell lines differing in the P-glycoprotein-associated multidrug-resistant phenotype.
J. Cancer Res. Clin. Oncol. 125:117-120(1999)

PubMed=11720477; DOI=10.1054/bjoc.2001.2074; PMCID=PMC2375251
Stassar M.J.J.G., Devitt G., Brosius M., Rinnab L., Prang J., Schradin T., Simon J., Petersen S., Kopp-Schneider A., Zoller M.
Identification of human renal cell carcinoma associated genes by suppression subtractive hybridization.
Br. J. Cancer 85:1372-1382(2001)

PubMed=11929824
Batrla R., Linnebacher M., Rudy W., Stumm S., Wallwiener D., Guckel B.
CD40-expressing carcinoma cells induce down-regulation of CD40 ligand (CD154) and impair T-cell functions.
Cancer Res. 62:2052-2057(2002)

PubMed=15977034; DOI=10.1007/s10334-005-0107-7
Lutz N.W., Franks S.E., Frank M.H., Pomer S., Hull W.E.
Investigation of multidrug resistance in cultured human renal cell carcinoma cells by 31P-NMR spectroscopy and treatment survival assays.
MAGMA 18:144-161(2005)