Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.W1220L
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INSR

NM_000208.4:p.W1220L

Associated Papers

Genealogical Rabson-Mendenhall syndrome caused by INSR gene mutation.

Yuan X et al.

American Journal of Physiology. Endocrinology and Metabolism, 2025

Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.

Zhou Q et al.

Frontiers in Endocrinology, 2021

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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."