This Week in PNAS

In the early edition of the Proceedings of the National Academy of Sciences, a team from the US, Taiwan, and Canada outline its sequencing-based efforts to identify rare variants involved in Noonan syndrome, a developmental condition that can stem from mutations affecting members of the RAS-ERK signaling pathway. Using germline DNA from 25 individuals with Noonan syndrome who did not carry alterations in known risk genes, the researchers performed whole-exome sequencing.

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