Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.H1157Q
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INSR

NM_000208.4:p.H1157Q

Associated Papers

Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance.

Sanderson EE et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.

Aghababaie AS et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

Association between Genetic Variants and Diabetes Mellitus in Iranian Populations: A Systematic Review of Observational Studies.

Khodaeian M et al.

Journal of Diabetes Research, 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

Insulin receptor gene mutations in iranian patients with type II diabetes mellitus.

Kazemi B et al.

Iranian Biomedical Journal, 2009

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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."