Associated Papers
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.
Jdila MB et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Raymond L et al.
Gene, 2013
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.
Nectoux J et al.
Clinical Genetics, 2006
Early onset seizures and Rett-like features associated with mutations in CDKL5.
Evans JC et al.
European Journal of Human Genetics : Ejhg, 2005
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