Publications:

A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: HR: Q238*

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.

Orphanet Journal Of Rare Diseases

Georgiou, Michalis M; Ali, Naser N; Yang, Elizabeth E; Grewal, Parampal S PS; Rotsos, Tryfon T; Pontikos, Nikolas N; Robson, Anthony G AG; Michaelides, Michel M

Publication Date: 2021-03-12

Variant appearance in text: HR: Gln238Ter

PubMed Link: 33712029

Variant Present in the following documents:

• 13023_2021_Article_1759.pdf

View BVdb publication page