Pathogenicity and selective constraint on variation near splice sites

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Figure 3.
Figure 3.

Clinical classifications of noncanonical near-splice DNMs. Relationship between clinical classifications of 38 splice region DNMs in undiagnosed DDD probands and PPVs calculated using observed and expected numbers of DNMs in 7833 probands.

This Article

  1. Published in Advance December 26, 2018, doi: 10.1101/gr.238444.118 Genome Res. 29: 159-170

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