Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.C186F
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INSR

NM_000208.4:p.C186F

Associated Papers

Hyperinsulinemic hypoglycemia syndrome associated with mutations in the human insulin receptor gene: report of two cases.

Kuroda Y et al.

Endocrine Journal, 2015

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Ardon O et al.

Molecular Genetics and Metabolism Reports, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."