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Nature Genetics
Article . 2012 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
Nature Genetics
Article . 2013
Data sources: Europe PubMed Central
https://dx.doi.org/10.1038/ng....
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Digenic inheritance and Mendelian disease

descriptionPublicationkeyboard_double_arrow_right Article 28 Nov 2012 English Publisher:Springer Science and Business Media LLCJournal:Nature Genetics, volume 44, pages 1,291-1,292 (issn: 1061-4036, eissn: 1546-1718, Copyright policy )
Authors: James R, Lupski;

doi: 10.1038/ng.2479

pmid: 23192179

Digenic inheritance and Mendelian disease

Abstract

Powerful genomic technologies, such as exome sequencing, are providing new insights into the genetics underlying Mendelian traits. A new study identifies a role for digenic inheritance and an epigenetic modifier in facioscapulohumeral muscular dystrophy type 2.

Related Organizations
Keywords

Genetic Diseases, Inborn, Humans, Muscular Dystrophy, Facioscapulohumeral, Epigenesis, Genetic

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    selected citations
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    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    		 57
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    		 Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    		 Top 10%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    		 Top 10%
Powered by OpenAIRE graph
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
57
Top 10%
Top 10%
Top 10%
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