Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.Q1336fs
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INSR

NM_000208.4:p.Q1336fs

Associated Papers

Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report.

Yan S et al.

Frontiers in Pediatrics, 2025

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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."