Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.T676fs
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NF1

NM_001042492.3:p.T676fs

Associated Papers

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Comprehensive characterization of early-onset lung cancer, in Chinese young adults.

Tian Y et al.

Nature Communications, 2025

40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_3_WES_SNV

UBTF tandem duplications in pediatric myelodysplastic syndrome and acute myeloid leukemia: implications for clinical screening and diagnosis.

Barajas JM et al.

Haematologica, 2024

38426285 (PubMed )
Supplement: 2023_284683_BARAJAS_SUPPL.pdf

A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa.

Neumayer G et al.

Nature Communications, 2024

38992003 (PubMed )
Supplement: 41467_2024_49400_MOESM8_ESM.zip › Source_Data › Figure_4 › Figure_4H › Figure_4H.xlsx › CO1-173_iSC

A new genomic framework to categorize pediatric acute myeloid leukemia.

Umeda M et al.

Nature Genetics, 2024

38212634 (PubMed )
Supplement: 41588_2023_1640_MOESM5_ESM.xlsx › Extended_data_Fig.1_source_data

UBTF Tandem Duplications in Pediatric MDS and AML: Implications for Clinical Screening and Diagnosis.

Barajas JM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

38014207 (PubMed )
Supplement: media-5.xlsx › Sheet1

Mutational Profile Enables the Identification of a High-Risk Subgroup in Myelodysplastic Syndromes with Isolated Trisomy 8.

Toribio-Castelló S et al.

Cancers, 2023

37568638 (PubMed )
Supplement: cancers-15-03822-s001.zip › Supplementary_tables.xlsx › Table_S2

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.

Kim R et al.

Blood Cancer Discovery, 2023

36630200 (PubMed )
Supplement: bcd-22-0154_supplementary_tables_s1-s11_suppst1-st11.xlsx › TableS2

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A et al.

Nature Cancer, 2023

36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_variants

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1

JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Bodaar K et al.

Leukemia, 2022

35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1

Therapy-related myeloid neoplasms resembling juvenile myelomonocytic leukemia: a case series and review of the literature.

Wintering A et al.

Pediatric Blood & Cancer, 2022

Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.

Tak E et al.

Oncology Reports, 2022

Intra-Tumor Heterogeneity of Colorectal Cancer Necessitates the Multi-Regional Sequencing for Comprehensive Mutational Profiling.

Guo S et al.

Cancer Management and Research, 2021

Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Montaño A et al.

Journal of Personalized Medicine, 2020

32967112 (PubMed )
Supplement: jpm-10-00137-s001.pdf

Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Bianchessi D et al.

Genes, 2020

Inactivation of NF1 Promotes Resistance to EGFR Inhibition in KRAS/NRAS/BRAFV600 -Wild-Type Colorectal Cancer.

Georgiou A et al.

Molecular Cancer Research : Mcr, 2020

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nagata Y et al.

Nature Communications, 2019

31772163 (PubMed )
Supplement: 41467_2019_13001_MOESM4_ESM.xlsx › SuppData2_AllVariantswithClone

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Zhu G et al.

Orphanet Journal of Rare Diseases, 2019

Implementation of standardized variant-calling nomenclature in the age of next-generation sequencing: where do we stand?

Eisfeld AK et al.

Leukemia, 2019

NF1 mutations are recurrent in adult acute myeloid leukemia and confer poor outcome.

Eisfeld AK et al.

Leukemia, 2018

Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.

Burns MA et al.

Leukemia, 2018

29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2

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

Comparative genomic analysis of primary tumors and metastases in breast cancer.

Bertucci F et al.

Oncotarget, 2016

27028851 (PubMed )
Supplement: oncotarget-07-27208-s001.pdf

Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.

Merlevede J et al.

Nature Communications, 2016

26908133 (PubMed )
Supplement: ncomms10767-s1.pdf

The genomic landscape of juvenile myelomonocytic leukemia.

Stieglitz E et al.

Nature Genetics, 2015

26457647 (PubMed )
Supplement: NIHMS716600-supplement-1.pdf

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_3.xlsx › mutation_annotation_file_538_co

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s8.pdf
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