Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

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Figure 4.
Figure 4.

Schematic of exon 3/intron 3 boundary showing severe and moderate mutations, presumed to represent deamination on opposite strands at the same CpG site. Obligate splice-site bases (GT) are underlined. 313C→T changes the first base of codon84 (CCC, proline) to T (TCC, serine).

This Article

  1. Genome Res. 15: 967-977

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