Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.G288delFs
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HNF1A

NM_000545.8:p.G288delFs

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.

Yarali O et al.

Molecular Syndromology, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › SUPPLEMENTARY_TABLE_1.xlsx › Comparison_FFPE

Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.

Park C et al.

Esmo Open, 2025

39778225 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_1

Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.

Kassem PH et al.

Bmc Medical Genomics, 2024

39123171 (PubMed )
Supplement: 12920_2024_1965_MOESM1_ESM.pdf

Unveiling the signaling network of FLT3-ITD AML improves drug sensitivity prediction.

Latini S et al.

Elife, 2024

38564252 (PubMed )
Supplement: elife-90532-supp9.xlsx › OncoKB_mutations

Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.

Ziogas DC et al.

Cancers, 2023

38201431 (PubMed )
Supplement: cancers-16-00002-s001.zip › Supplementary_Tables.pdf

Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study.

Wu HX et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Marucci A et al.

Acta Diabetologica, 2023

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › cancer_driver

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members

Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.

Bonner ER et al.

Npj Precision Oncology, 2022

36068285 (PubMed )
Supplement: 41698_2022_306_MOESM3_ESM.xlsx › 3.846CSF_Complete_Output

Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Gutierrez-Rodrigues F et al.

Haematologica, 2022

34587721 (PubMed )
Supplement: 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Kostecka A et al.

Npj Breast Cancer, 2022

35768433 (PubMed )
Supplement: 41523_2022_443_MOESM4_ESM.xlsx › Truncating_variants

Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.

Villafranca-Magdalena B et al.

International Journal of Molecular Sciences, 2022

35682944 (PubMed )
Supplement: ijms-23-06266-s001.zip › Table_S5.xlsx › Hoja1

Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes.

Pezzilli S et al.

Acta Diabetologica, 2022

Circulating Cell-Free DNA-Based Comprehensive Molecular Analysis of Biliary Tract Cancers Using Next-Generation Sequencing.

Csoma SL et al.

Cancers, 2022

A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.

Sinha S et al.

Nature Communications, 2021

34764240 (PubMed )
Supplement: 41467_2021_26788_MOESM14_ESM.zip › Source_Data › Source_Data_Figure_1-6.xlsx › Figure_6F

Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.

Skoczek D et al.

International Journal of Molecular Sciences, 2021

34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Goodrich JK et al.

Nature Communications, 2021

34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2

Molecular Profiling of Merkel Cell Polyomavirus-Associated Merkel Cell Carcinoma and Cutaneous Melanoma.

Mokánszki A et al.

Diagnostics (basel, Switzerland), 2021

Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations.

Isidori F et al.

Clinical and Translational Gastroenterology, 2020

Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.

Kutasovic JR et al.

The Journal of Pathology. Clinical Research, 2019

30246500 (PubMed )
Supplement: CJP2-5-25-s002.xlsx › SupTable_11__Sequencing_data

Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus.

Ludovico O et al.

Plos One, 2015

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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."