Associated Papers
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.
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Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
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Marfan Database (third edition): new mutations and new routines for the software.
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Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
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An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.
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Software and database for the analysis of mutations in the human FBN1 gene.
Collod G et al.
Nucleic Acids Research, 1996
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