Table 1 Codebook specifying data capture form spreadsheet headings
Item | Variable name | Value label |
|---|---|---|
Identification of publication | pmid | PubMed Identifier is a unique integer value assigned to each PubMed abstract record (to be distinguished from PMCID that corresponds to full-text records in PMC) |
Identification of publication | doi | The Digital Object Identifier from the International DOI Foundation is a generic framework for managing identification of content over digital networks. |
Identification of publication | harvard | Use a full reference in Harvard style as described in https://www.mendeley.com/guides/harvard-citation-guide. Include a full url to the journal homepage each time a DOI and PMID do not exist by searching the url on the NLM catalog online (https://www.ncbi.nlm.nih.gov/nlmcatalog) |
Year of publication | year | |
Authors | authors | |
Title of Publication | title | |
Journal of publication | journal | |
Full abstract | abstract | |
Phenotype of a group of rare diseases | gener_pheno | Rare diseases phenotypical grouping, e.g. Congenital Myasthenic Syndromes CMS |
Specific phenotype unde the generic phenotype | specific_phenotype | e.g. DOK7-related CMS form under CMS |
Type of study | study_type | case, series, cohort, non-controlled trial, randomised controlled trial, double blind randomised controlled trial, other |
Number of patients | patients_num | |
Gene | gene | |
Subtype descriptive name | subtype_name | |
Subtype OMIM code | subtype_OMIM | |
Variants | variants | |
Inheritance and zygoty | inher_zigoty | |
Drug | drug1 | |
Effect | effect1 | |
Drug | drug2 | |
Effect | effect2 | |
Drug | drug3 | |
Effect | effect3 | |
Contraindications | contraind |