Associated Papers
Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.
Wu X et al.
Frontiers in Pediatrics, 2023
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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