Varaico: Literature-Extracted Genetic Variants

Gene:INSR
Variant:p.K148*
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INSR

NM_000208.4:p.K148*

Associated Papers

Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.

Bastaki F et al.

Hormone Research in Paediatrics, 2017

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

Genotype-phenotype correlation in inherited severe insulin resistance.

Longo N et al.

Human Molecular Genetics, 2002

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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."