Whole exome sequencing identifies the firstSTRADApoint mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)

Title
Whole exome sequencing identifies the firstSTRADApoint mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 8, Pages 2181-2185
Publisher
Wiley
Online
2016-05-12
DOI
10.1002/ajmg.a.37727

Ask authors/readers for more resources

Create your own webinar

Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.

Create Now

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