Publications:

A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: TTN: 584G>A; Gly195Asp

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Human Mutation

Peeters, Manon H C A MHCA; Khan, Mubeen M; Rooijakkers, Anoek A M B AAMB; Mulders, Timo T; Haer-Wigman, Lonneke L; Boon, Camiel J F CJF; Klaver, Caroline C W CCW; van den Born, L Ingeborgh LI; Hoyng, Carel B CB; Cremers, Frans P M FPM; den Hollander, Anneke I AI; Dhaenens, Claire-Marie CM; Collin, Rob W J RWJ

Publication Date: 2021-12

Variant appearance in text: TMD: 584G>A

PubMed Link: 34411390

Variant Present in the following documents:

• Main text
• HUMU-42-1521.pdf

View BVdb publication page

Renouncing electroneutrality is not free of charge: switching on electrogenicity in a Na+-coupled phosphate cotransporter.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bacconi, Andrea A; Virkki, Leila V LV; Biber, Jürg J; Murer, Heini H; Forster, Ian C IC

Publication Date: 2005-08-30

Variant appearance in text: TMD: G195D

PubMed Link: 16113079

Variant Present in the following documents:

• Main text

View BVdb publication page