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Article

Genotype-Structure-Phenotype Correlations of Disease-Associated IGF1R Variants and Similarities to Those of INSR Variants.

Diabetes - 1 Aug 2021

Hosoe Jun, Kawashima-Sonoyama Yuki, Miya Fuyuki, Kadowaki Hiroko, Suzuki Ken, Kato Takashi, Matsuzawa Fumiko, Aikawa Sei-Ichi, Okada Yukinori, Tsunoda Tatsuhiko, Hanaki Keiichi, Kanzaki Susumu, Shojima Nobuhiro, Yamauchi Toshimasa, Kadowaki Takashi

Abstract excerpt

We previously reported genotype-phenotype correlations in 12 missense variants causing severe insulin resistance, located in the second and third fibronectin type III (FnIII) domains of the insulin receptor (INSR), containing the α-β cleavage and part of insulin-binding sites. This study aimed to identify genotype-phenotype correlations in FnIII domain variants of IGF1R, a structurally related homolog of INSR,...

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PMID: 34074726
DOI: 10.2337/db20-1145

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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