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Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

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author: Ana Justino  Joris A Veltman  José C. Machado  Han G. Brunner  Helger G Yntema  Willy M Nillesen  Suzanna G.m. Frints  Marco Tartaglia  Lisenka Vissers  Joep de Ligt  Jose Luis Costa 

Publication date June 18, 2014
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