Associated Papers
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.
Arbesman J et al.
Pigment Cell & Melanoma Research, 2018
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
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
Heintz C et al.
Molecular Genetics and Metabolism, 2012
The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.
Dobrowolski SF et al.
Molecular Genetics and Metabolism, 2010
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