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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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Detaylı Bibliyografya
Yayımlandı:Genome Med
Asıl Yazarlar: Pounraja, Vijay Kumar, Girirajan, Santhosh
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2019
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6477710/
https://ncbi.nlm.nih.gov/pubmed/31014384
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0641-y
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