Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

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Figure 2.
Figure 2.

Loss of function prediction: KIF1A scores in all the tools. (Orange) The subset of variations that were predicted as harmful by SIFT. (Pink) Harmful variations by PolyPhen. (Green) Harmful variations by MutationTaster. (Blue) High-quality variations based on SNVmix scores. The HDBLP variation was later proved to be a sequencing error. KIF1A is the only harmful variation.

This Article

  1. Published in Advance April 12, 2011, doi: 10.1101/gr.117143.110 Genome Res. 21: 658-664

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