Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 2021
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
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Thompson-Stone R et al.
Molecular Genetics and Metabolism, 0
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