Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.E1074Q
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INSR

NM_000208.4:p.E1074Q

Associated Papers

Case report: A case of Rabson-Mendenhall syndrome: long-term follow-up and therapeutic management with empagliflozin.

Foglino R et al.

Frontiers in Genetics, 2024

38978877 (PubMed )
Supplement: Table1.XLSX › Foglio1

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

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Grasso V et al.

Acta Diabetologica, 2013

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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."