Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 359, doi. 10.1111/cge.12189

By:

• Davis, E.E.;
• Savage, J.H.;
• Willer, J.R.;
• Jiang, Y.‐H.;
• Angrist, M.;
• Androutsopoulos, A.;
• Katsanis, N.

Publication type:

Article