Associated Papers
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Rius R et al.
Molecular Genetics and Metabolism, 2019
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_motif
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
Schaller A et al.
Bmc Neurology, 2011
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