Associated Papers
FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review.
Wang JJ et al.
Genes, 2022
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
Desmet FO et al.
Nucleic Acids Research, 2009
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