Chunk #6 — RESULTS — Genetic analysis.

Source

encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

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yes

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The 5 missense variants are predicted to be deleterious using the dbNSFP database and are not reported in the 1000 Genomes, ExAC, and EVS databases. The splicing mutation c.723+1G>A was predicted to cause the loss of a splice donor site using Mutation Taster and Berkeley Drosophila Genome Project.