Associated Papers
VarXOmics: a versatile web server for genomic data querying, analysis, and variant prioritization with multi-omics insights.
Liao X et al.
Journal of Molecular Biology, 2026
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis
Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.
Abdelwahed M et al.
Gene, 2024
Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.
Trhanint S et al.
International Journal of Pediatrics & Adolescent Medicine, 2022
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
29649263 (PubMed )
Supplement: pone.0195761.s005.xlsx › S5
Three novel mutations in MODY and its phenotype in three different Czech families.
Bazalová Z et al.
Diabetes Research and Clinical Practice, 2010
Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study).
Eide SA et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2008
GCK and HNF1alpha mutations and polymorphisms in Polish women with gestational diabetes.
Zurawek M et al.
Diabetes Research and Clinical Practice, 2007
[Etiological dissection in common anti-islet autoantibody-negative patients with type 1 diabetes].
Zhang DM et al.
Zhonghua Yi Xue Za Zhi, 2004
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Ellard S
Human Mutation, 2000
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