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Journal article

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

Abstract:

Defining the genetic contribution of rare variants to common diseases is a major basic and clinical science challenge that could offer new insights into disease etiology and provide potential for directed gene- and pathway-based prevention and treatment. Common and rare nonsynonymous variants in the GCKR gene are associated with alterations in metabolic traits, most notably serum triglyceride levels. GCKR encodes glucokinase regulatory protein (GKRP), a predominantly nuclear protein that inhi...

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Publication status:
Published

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Publisher copy:
10.1172/jci46425

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Journal:
The Journal of clinical investigation
Volume:
122
Issue:
1
Pages:
205-217
Publication date:
2012-01-05
DOI:
EISSN:
1558-8238
ISSN:
0021-9738
URN:
uuid:a2ce77aa-66e5-4dec-b253-52a975d72cca
Source identifiers:
221354
Local pid:
pubs:221354

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