• Mutation; HGNC; HGNC:12687; VHL; Simple; p.Tyr175Thrfs*27 (c.523delT); Zygosity=Unspecified (PubMed=7915601; PubMed=8493574).
  

PubMed=1345811
Anglard P., Trahan E.E. Jr., Liu S., Latif F., Merino M.J., Lerman M.I., Zbar B., Linehan W.M.
Molecular and cellular characterization of human renal cell carcinoma cell lines.
Cancer Res. 52:348-356(1992)

PubMed=8319216
Reiter R.E., Anglard P., Liu S., Gnarra J.R., Linehan W.M.
Chromosome 17p deletions and p53 mutations in renal cell carcinoma.
Cancer Res. 53:3092-3097(1993)

PubMed=8493574; DOI=10.1126/science.8493574
Latif F., Tory K., Gnarra J.R., Yao M., Duh F.-M., Orcutt M.L., Stackhouse T., Kuzmin I.A., Modi W.S., Geil L., Schmidt L.S., Zhou F.-W., Li H., Wei M.H., Chen F., Glenn G., Choyke P., Walther M.M., Weng Y.-K., Duan D.-S.R., Dean M., Glavac D., Richards F.M., Crossey P.A., Ferguson-Smith M.A., Le Paslier D., Chumakov I., Cohen D., Chinault A.C., Maher E.R., Linehan W.M., Zbar B., Lerman M.I.
Identification of the von Hippel-Lindau disease tumor suppressor gene.
Science 260:1317-1320(1993)

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)