Varaico: Literature-Extracted Genetic Variants

Gene:IRS4
Variant:p.K592fs
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IRS4

NM_001379150.1:p.K592fs

Associated Papers

A Novel X-Linked Variant c.1772delG (p.G591fs*20) in IRS4 in Two Related Patients with Central Hypothyroidism.

Köprülü Ö et al.

Molecular Syndromology, 2025

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

Systematic comprehension of genomics and mutational landscape of glioma: A goal towards advanced therapeutics.

Dakal TC et al.

Neuroscience, 2025

Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.

Lauffer P et al.

Thyroid : Official Journal of the American Thyroid Association, 2023

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening.

Naafs JC et al.

European Journal of Endocrinology, 2020

Mutations in IRS4 are associated with central hypothyroidism.

Heinen CA et al.

Journal of Medical Genetics, 2018

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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."