Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.H1157R
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INSR

NM_000208.4:p.H1157R

Associated Papers

A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.

Lin X et al.

Gene, 2026

Insulin receptor variants: Extending the traditional Mendelian spectrum.

Collin-Chavagnac D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Neonatal and Syndromic Forms of Diabetes.

Gobble MRS et al.

Current Diabetes Reports, 2025

A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome.

Song Y et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024

Identification of a novel mutation in patients with type A insulin resistance syndrome.

Zhao L et al.

Human Heredity, 2022

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

Sanderson EE et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

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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."