Syndromology at the interface of evolving phenotypes, epimutations, and model systems

Nuria C. Bramswig; Dagmar Wieczorek

PMC · DOI:10.1515/medgen-2024-2024·June 6, 2024

Syndromology at the interface of evolving phenotypes, epimutations, and model systems

Nuria C. Bramswig, Dagmar Wieczorek

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Abstract

Linked entities

Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.

Species1

Homo sapiens(human · species)

Diseases6

multiple disabilities rare genetic diseases syndromic diseases developmental and psychiatric disorders Costello syndrome

Figures2

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Taxonomy

TopicsGenetic Mapping and Diversity in Plants and Animals · Genetic Associations and Epidemiology · Genetic and phenotypic traits in livestock