Associated Papers
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M et al.
Annals of Clinical and Translational Neurology, 2019
31469252 (PubMed )
Supplement: ACN3-6-1858-s001.pdf
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
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E et al.
Orphanet Journal of Rare Diseases, 2014
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