Research output

MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases

Research output: Contribution to journalArticleAcademicpeer-review

Associated researcher

Associated organisations

    Research areas

  • databases, FAIR data, genetic variation, MECP2, phenotype, Rett syndrome, INTELLECTUAL DISABILITY, MUTATION DATABASE, GENOMIC VARIATION, HUMAN-DISEASE, VARIANTS, HUMANS, BIOINFORMATICS, RESOURCES, BIOBANKS, UPDATE
View graph of relations

Details

Original languageEnglish
Pages (from-to)914-924
Number of pages11
JournalHuman Mutation
Volume39
Issue number7
DOIs
Publication statusPublished - Jul 2018