Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
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Eur J Hum Genet. 2015 Mar;23(3):317-24. doi: 10.1038/ejhg.2014.115. Epub 2014 Jun 18.
Eur J Hum Genet. 2015.
PMID: 24939586
Free PMC article.