Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D4
Variant:p.R1249W
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TBC1D4

NM_014832.5:p.R1249W

Associated Papers

Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.

Winzig F et al.

The Journal of Infectious Diseases, 2025

40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Supplementary_table_5_gene_hits_in_WES_analysis.xlsx › Sheet2

Clinical and Genetic Characteristics of Patients with Early-Onset Diabetes Involving at Least Two Consecutive Generations: Whole-Exome Sequencing in Probands from 25 Pedigrees.

Ran CQ et al.

Current Medical Science, 2025

Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea.

Cheon CK et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

Detection and analysis of glucose metabolism-related genes in childhood diabetes using targeted next-generation sequencing: In pediatric population-a hospital-based study.

Wang X et al.

Experimental and Therapeutic Medicine, 2020

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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."