Computational protocol: CDKL5 variants

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Protocol publication

[…] The effects of missense and splicing variants in CDKL5 were predicted using several algorithms (missense: SIFT, PolyPhen, MutationTaster, and PROVEAN; splicing variants: MaxEntScan and dbscSNV), provided within the Ensembl Variant Effect Predictor (VEP). […]

library_books

CDKL5 variants

2017 Neurology: Genetics
PMCID: 5732004
PMID: 29264392
DOI: 10.1212/NXG.0000000000000200

Pipeline specifications

Software tools PolyPhen, MutationTaster, MaxEntScan, VEP
Application WGS analysis
Organisms Homo sapiens
Diseases Nervous System Diseases