CFTR c.894G>A ;(p.K298=)

Variant ID: 7-117180178-G-A

NM_000492.3(CFTR):c.894G>A;(p.K298=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.

Nature Communications
Gao, Dadi D; Morini, Elisabetta E; Salani, Monica M; Krauson, Aram J AJ; Chekuri, Anil A; Sharma, Neeraj N; Ragavendran, Ashok A; Erdin, Serkan S; Logan, Emily M EM; Li, Wencheng W; Dakka, Amal A; Narasimhan, Jana J; Zhao, Xin X; Naryshkin, Nikolai N; Trotta, Christopher R CR; Effenberger, Kerstin A KA; Woll, Matthew G MG; Gabbeta, Vijayalakshmi V; Karp, Gary G; Yu, Yong Y; Johnson, Graham G; Paquette, William D WD; Cutting, Garry R GR; Talkowski, Michael E ME; Slaugenhaupt, Susan A SA
Publication Date: 2021-06-07

Variant appearance in text: CFTR: 894G>A
PubMed Link: 34099697
Variant Present in the following documents:
  • 41467_2021_Article_23663.pdf
View BVdb publication page