Exome
Stéphanie Bauché et al.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
The American Journal of Human Genetics 2016, vol. 99, issue 3
doi: 10.1016/j.ajhg.2016.06.033
Kilan Le Guennec et al.
ABCA7 rare variants and Alzheimer disease risk
Neurology 2016, vol. 86, issue 23
doi: 10.1212/wnl.0000000000002627