Publications:

Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.

Frontiers In Genetics

He, Junyu J; Liu, Xin X; Liu, Liyi L; Zeng, Shaohao S; Shan, Shuanghong S; Liao, Zhihong Z

Publication Date: 2022

Variant appearance in text: PC: 3403C>T

PubMed Link: 35198007

Variant Present in the following documents:

• Main text
• fgene-13-810537.pdf

View BVdb publication page

Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine

Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA

Publication Date: 2021-07-16

Variant appearance in text: PC: 3403C>T

PubMed Link: 34271981

Variant Present in the following documents:

• 13073_2021_926_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page