Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S1329*
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NF1

NM_001042492.3:p.S1329*

Associated Papers

Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.

Zheng Y et al.

Human Molecular Genetics, 2025

40719757 (PubMed )
Supplement: supplemental-tabless1-4_clean_ddaf108.xlsx › Table-S4-VariantsDistribution

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Proteogenomic Approaches for the Identification of NF1/Neurofibromin-depleted Estrogen Receptor-positive Breast Cancers for Targeted Treatment.

Kim BJ et al.

Cancer Research Communications, 2023

Molecular Tumor Boards: The Next Step towards Precision Therapy in Cancer Care.

Liu A et al.

Hematology Reports, 2023

37092519 (PubMed )
Supplement: hematolrep-15-00025-s001.zip › hematolrep-2176609-supplementary.pdf

Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Lucas CG et al.

Acta Neuropathologica, 2022

35945463 (PubMed )
Supplement: 401_2022_2478_MOESM1_ESM.xlsx › Table_S5

Distinct Genomic Profiles Are Associated with Treatment Response and Survival in Ovarian Cancer.

de Witte CJ et al.

Cancers, 2022

35326660 (PubMed )
Supplement: cancers-14-01511-s001.zip › Supplemenatry_Tables_1_to_8.xlsx › TableS7_Actionability

Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance.

Pearson A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM10_ESM.xlsx › Sheet1

Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.

Palma Milla C et al.

Annals of Human Genetics, 2018

Comprehensive targeted super-deep next generation sequencing enhances differential diagnosis of solitary pulmonary nodules.

Ye M et al.

Journal of Thoracic Disease, 2018

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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."