Associated Papers
A rare case of fatty acyl-CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype.
Radha Rama Devi A et al.
Clinical Genetics, 2021
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Alshenaifi J et al.
Clinical Genetics, 2019
The landscape of human mutually exclusive splicing.
Hatje K et al.
Molecular Systems Biology, 2017
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-s4.xls › SwissvarFilteredMix
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Buchert R et al.
American Journal of Human Genetics, 2014
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