Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S1766*
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NF1

NM_001042492.3:p.S1766*

Associated Papers

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4

Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene.

Smeijers S et al.

Journal of Medical Genetics, 2024

A Comprehensive Overview of NF1 Mutations in Iranian Patients.

Savad S et al.

Neuromolecular Medicine, 2024

Clinical and molecular predictors of very late recurrence in oestrogen receptor-positive breast cancer patients.

Richman J et al.

Breast Cancer Research and Treatment, 2024

38709373 (PubMed )
Supplement: 10549_2024_7311_MOESM2_ESM.xlsx › Suppl_Table_5

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_3.xlsx › somatic_alterations

Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families.

Sharifi S et al.

Balkan Medical Journal, 2021

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Upadhyaya M et al.

Human Mutation, 2008

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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."