Meta-analysis of gene-level tests for rare variant association.

Eitemau Tebyg

• Meta-analysis of gene-level tests for rare variant association
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  Cyhoeddwyd: (2014)
• Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
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  Cyhoeddwyd: (2013)
• Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
  gan: Stitziel, N, et al.
  Cyhoeddwyd: (2013)
• New insights into impaired muscle glycogen synthesis.
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  Cyhoeddwyd: (2008-01-01)
• Variants in the calpain-10 gene predispose to insulin resistance and elevated free fatty acid levels.
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  Cyhoeddwyd: (2002)