Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.F1213L
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INSR

NM_000208.4:p.F1213L

Associated Papers

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Sethi A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2020

Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion.

Verdecchia F et al.

Hormone Research in Paediatrics, 2020

Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation.

Innaurato S et al.

Pediatric Diabetes, 2018

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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."