ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping
ATP7B 变异 c.1934T > G p.Met645Arg 通过促进外显子 6 跳跃导致威尔逊病
期刊:npj Genomic Medicine
影响因子:4.7
doi:10.1038/s41525-020-0123-6
Daniele Merico # ,Carl Spickett # ,Matthew O'Hara # ,Boyko Kakaradov ,Amit G Deshwar ,Phil Fradkin ,Shreshth Gandhi ,Jiexin Gao ,Solomon Grant ,Ken Kron ,Frank W Schmitges ,Zvi Shalev ,Mark Sun ,Marta Verby ,Matthew Cahill ,James J Dowling ,Johan Fransson ,Erno Wienholds ,Brendan J Frey
