Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.L1150P
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INSR

NM_000208.4:p.L1150P

Associated Papers

Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.

Pliszka M et al.

International Journal of Molecular Sciences, 2025

Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother.

Koca SB et al.

Archives of Endocrinology and Metabolism, 2024

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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."