NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

标题
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
作者
关键词
Deglycosylation, Intellectual disability, Neuromotor defect, NGLY1, Whole-exome sequencing
出版物
European Journal of Medical Genetics
Volume 58, Issue 1, Pages 39-43
出版商
Elsevier BV
发表日期
2014-09-09
DOI
10.1016/j.ejmg.2014.08.008

向作者/读者发起求助以获取更多资源

Reprint

联系作者

Publish scientific posters with Peeref

Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.

Learn More

Become a Peeref-certified reviewer

The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.

Get Started