Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.G288fs
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HNF1A

NM_000545.8:p.G288fs

Associated Papers

Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

Seo ES et al.

Nature Communications, 2024

39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list

Inflammation in the tumor-adjacent lung as a predictor of clinical outcome in lung adenocarcinoma.

Dolgalev I et al.

Nature Communications, 2023

37938580 (PubMed )
Supplement: 41467_2023_42327_MOESM7_ESM.xlsx › snvs

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

HNF1A:From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.

Li LM et al.

Frontiers in Endocrinology, 2022

Single-cell analysis based dissection of clonality in myelofibrosis.

Mylonas E et al.

Nature Communications, 2020

31911629 (PubMed )
Supplement: 41467_2019_13892_MOESM4_ESM.xlsx › MPN05

Assessment of ctDNA in CSF may be a more rapid means of assessing surgical outcomes than plasma ctDNA in glioblastoma.

Li JH et al.

Molecular and Cellular Probes, 2019

Lineage-Specific Alterations in Gynecologic Neoplasms with Choriocarcinomatous Differentiation: Implications for Origin and Therapeutics.

Xing D et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

31010836 (PubMed )
Supplement: 10780432ccr184278-sup-214539_3_supp_5445391_ppjcvv.xlsx › Sheet1

Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oliveira DM et al.

Oncotarget, 2018

29844865 (PubMed )
Supplement: oncotarget-09-23960-s003.xlsx › Supplemental_Table_S2

High Prevalence of Diabetes-Predisposing Variants in MODY Genes Among Danish Women With Gestational Diabetes Mellitus.

Gjesing AP et al.

Journal of the Endocrine Society, 2017

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

28569218 (PubMed )
Supplement: 13058_2017_854_MOESM3_ESM.xlsx › Table_S6

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Li YY et al.

Nature Communications, 2017

28098136 (PubMed )
Supplement: ncomms14121-s6.xlsx › Primary_Recurrences_or_mets

Mutational analysis of pulmonary tumours with neuroendocrine features using targeted massive parallel sequencing: a comparison of a neglected tumour group.

Vollbrecht C et al.

British Journal of Cancer, 2015

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