Associated Papers
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Brinkmann J et al.
European Journal of Human Genetics : Ejhg, 2021
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.
Larson ED et al.
Human Mutation, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Vissers LE et al.
European Journal of Human Genetics : Ejhg, 2015
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