Publications:

Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications

Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH

Publication Date: 2022-05-04

Variant appearance in text: APC: 376G>T; Gly126*

PubMed Link: 35508466

Variant Present in the following documents:

• 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: APC: 376G>T; Gly126*

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

View BVdb publication page

Variation of a variation: case report of attenuated familial adenomatous polyposis.

Hpb : The Official Journal Of The International Hepato Pancreato Biliary Association

Bhatnagar, P P; Tetzlaff, H H; Izatt, L L; Devlin, J J; Heaton, N D ND

Publication Date: 2006

Variant appearance in text: APC: G126X

PubMed Link: 18333267

Variant Present in the following documents:

• Main text

View BVdb publication page

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

Gut

Sieber, O M OM; Segditsas, S S; Knudsen, A L AL; Zhang, J J; Luz, J J; Rowan, A J AJ; Spain, S L SL; Thirlwell, C C; Howarth, K M KM; Jaeger, E E M EE; Robinson, J J; Volikos, E E; Silver, A A; Kelly, G G; Aretz, S S; Frayling, I I; Hutter, P P; Dunlop, M M; Guenther, T T; Neale, K K; Phillips, R R; Heinimann, K K; Tomlinson, I P M IP

Publication Date: 2006-10

Variant appearance in text: APC: G126X

PubMed Link: 16461775

Variant Present in the following documents:

• Main text

View BVdb publication page