POLE c.280_281delinsGA ;(p.F94D)

Variant ID: 12-133257197-AA-TC

NM_006231.2(POLE):c.280_281delinsGA;(p.F94D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Plos One
Perne, Claudia C; Peters, Sophia S; Cartolano, Maria M; Horpaopan, Sukanya S; Grimm, Christina C; Altmüller, Janine J; Sommer, Anna K AK; Hillmer, Axel M AM; Thiele, Holger H; Odenthal, Margarete M; Möslein, Gabriela G; Adam, Ronja R; Sivalingam, Sugirthan S; Kirfel, Jutta J; Schweiger, Michal R MR; Peifer, Martin M; Spier, Isabel I; Aretz, Stefan S
Publication Date: 2021

Variant appearance in text: POLE: F94D
PubMed Link: 34843512
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Plos One
Perne, Claudia C; Peters, Sophia S; Cartolano, Maria M; Horpaopan, Sukanya S; Grimm, Christina C; Altmüller, Janine J; Sommer, Anna K AK; Hillmer, Axel M AM; Thiele, Holger H; Odenthal, Margarete M; Möslein, Gabriela G; Adam, Ronja R; Sivalingam, Sugirthan S; Kirfel, Jutta J; Schweiger, Michal R MR; Peifer, Martin M; Spier, Isabel I; Aretz, Stefan S
Publication Date: 2021

Variant appearance in text: POLE: F94D
PubMed Link: 34843512
Variant Present in the following documents:
  • Main text
View BVdb publication page