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Molecular basis for phenotypic similarity of genetic disorders

The contribution of distinct genes to overlapping phenotypes suggests that such genes share ancestral origins, membership of disease pathways, or molecular functions. A recent study by Liu and colleagues identified mutations in TCF20, a paralog of RAI1, among individuals manifesting a novel syndrome...

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Detalles Bibliográficos
Autores principales: Pounraja, Vijay Kumar, Girirajan, Santhosh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477710/
https://www.ncbi.nlm.nih.gov/pubmed/31014384
http://dx.doi.org/10.1186/s13073-019-0641-y