Undiagnosed Rare Genetic Disorders: Importance of Functional Characterization of Variants
Undiagnosed Rare Genetic Disorders: Importance of Functional Characterization of Variants
About this item
Full title
Undiagnosed Rare Genetic Disorders: Importance of Functional Characterization of Variants
Author / Creator
Publisher
Switzerland: MDPI AG
Journal title
Genes, 2023-07, Vol.14 (7), p.1469
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Rare Genetic Disorders (RGDs) are defined as disorders that affect less than 1 in 2000 people, and collectively affect more than 300 million people worldwide [...]
Alternative Titles
Full title
Undiagnosed Rare Genetic Disorders: Importance of Functional Characterization of Variants
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10379732
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10379732
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes14071469
