VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality
Bernhard U Bender, Charis Eng, Manfred Olschewski, Dietmar P Berger, Jörg Laubenberger, Carsten Altehöfer, Günter Kirste, Miro Orszagh, Vera van Velthoven, Henning Miosczka, Dieter Schmidt, Hartmut P H Neumann
Journal of Medical Genetics Aug 2001, 38 (8) 508-514; DOI: 10.1136/jmg.38.8.508