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Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

BACKGROUND: Systemic sclerosis (SSc) is a rheumatologic disease with a multifactorial etiology. Genome-wide association studies imply a polygenic, complex mode of inheritance with contributions from variation at the human leukocyte antigen locus and non-coding variation at a locus on chromosome 6p21...

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Dettagli Bibliografici
Pubblicato in:BMC Musculoskelet Disord
Autori principali: Cardinale, Christopher J., Li, Dong, Tian, Lifeng, Connolly, John J., March, Michael E., Hou, Cuiping, Wang, Fengxiang, Snyder, James, Kim, Cecilia E., Chiavacci, Rosetta M., Sleiman, Patrick M., Burnham, Jon M., Hakonarson, Hakon
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5103422/
https://ncbi.nlm.nih.gov/pubmed/27829420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12891-016-1320-4
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