Associated Papers
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
Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency.
Titapiwatanakun R et al.
Pediatric Blood & Cancer, 2008
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S et al.
British Journal of Haematology, 2006
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