• Mutation; HGNC; HGNC:12687; VHL; Simple; p.Asn78Ile (c.233A>T); ClinVar=VCV000223169; Zygosity=Unspecified (PubMed=10925357).
  

PubMed=10925357; DOI=10.1002/1097-0215(20000901)87:5<650::AID-IJC5>3.0.CO;2-3
Meyer A.J., Hernandez A., Florl A.R., Enczmann J., Gerharz C.-D., Schulz W.A., Wernet P., Ackermann R.
Novel mutations of the von Hippel-Lindau tumor-suppressor gene and rare DNA hypermethylation in renal-cell carcinoma cell lines of the clear-cell type.
Int. J. Cancer 87:650-653(2000)

PubMed=11139287; DOI=10.1038/sj.cdd.4400746
Dejosez M., Ramp U., Mahotka C., Krieg A., Walczak H., Gabbert H.E., Gerharz C.-D.
Sensitivity to TRAIL/APO-2L-mediated apoptosis in human renal cell carcinomas and its enhancement by topotecan.
Cell Death Differ. 7:1127-1136(2000)

CLPUB00407
Krieg A.
Characterization and functional analysis of the TRAIL system and the inhibitor of apoptosis protein (IAP) family in human neoplasia.
Thesis MD (2005); Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany