Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.G597insFs
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IRS1

NM_005544.3:p.G597insFs

Associated Papers

Focal cortical dysplasia type II: review of neuropathological manifestations and pathogenetic mechanisms.

Fang Y et al.

Acta Epileptologica, 2025

Focal cortical dysplasia II caused by brain somatic mutation of IRS-1 is associated with ERK signaling pathway activation.

Li X et al.

Cerebral Cortex (new York, N.y. : 1991), 2024

Diabetes mellitus with severe insulin resistance in a young male patient with a heterozygous pathogenic IRS1 frameshift variant.

Osawa Y et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024

Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

He P et al.

Frontiers in Oncology, 2023

36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Mayo S et al.

International Journal of Molecular Sciences, 2022

Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Yang Z et al.

Nature Communications, 2020

32985499 (PubMed )
Supplement: 41467_2020_18702_MOESM5_ESM.xlsx › Sheet1

Somatic variants in new candidate genes identified in focal cortical dysplasia type II.

Zhang Z et al.

Epilepsia, 2020

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s004.xlsx › MSI
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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."