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Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.08.013
Abstract: Exome sequencing has readily enabled the discovery of the genetic mutations responsible for a wide range of diseases. This success has been particularly remarkable in the severe epilepsies and other neurodevelopmental diseases for which rare,…
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Keywords:
mutations ppp3ca;
novo mutations;
disease;
cause severe ... See more keywords