• Mutation; HGNC; HGNC:12687; VHL; Simple; p.Asp126Gly (c.377A>G); ClinVar=VCV000456585; Zygosity=Unspecified (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=9255309; DOI=10.1016/S0090-4295(97)00220-3
Walther M.M., Kleiner D.E., Lubensky I.A., Pozzatti R., Nyguen T., Gnarra J.R., Hurley K., Venzon D., Linehan W.M., Stetler-Stevenson W.G.
Progelatinase A mRNA expression in cell lines derived from tumors in patients with metastatic renal cell carcinoma correlates inversely with survival.
Urology 50:295-301(1997)