Go to content
UR Home

How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?

Karrasch, Thomas ; Herbst, Saskia M. ; Hehr, Ute ; Schmid, Andreas ; Schäffler, Andreas


Introduction and Background: Familial medullary thyroid cancer (FMTC) is caused by gain of function mutations in the proto-oncogene RET (rearranged during transfection). Missense mutations within exon 14 including p. Val804Met are known to cause FMTC and multiple endocrine neoplasia type 2a/b. The clinical significance of other novel missense variants within this hotspot region of exon 14 is not ...


Owner only: item control page
  1. Homepage UR

University Library

Publication Server


Publishing: oa@ur.de

Dissertations: dissertationen@ur.de

Research data: daten@ur.de

Contact persons