Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q28*
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NF1

NM_001042492.3:p.Q28*

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

Clinical impact of mixed pulmonary carcinoma and carcinoid: the driver from their mono-clonal origin.

Graziano P et al.

Virchows Archiv : an International Journal of Pathology, 2024

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

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.

Sorrentino U et al.

Cancers, 2021

Mixed Pulmonary Adenocarcinoma and Atypical Carcinoid: A Report of Two Cases of a Non-codified Entity With Biological Profile.

Parente P et al.

Frontiers in Molecular Biosciences, 2021

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.

Kang E et al.

Journal of Human Genetics, 2020

Comprehensive Genetic Characterization of Human Thyroid Cancer Cell Lines: A Validated Panel for Preclinical Studies.

Landa I et al.

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

Familial schwannomatosis with a germline mutation of SMARCB1 in Japan.

Asai K et al.

Brain Tumor Pathology, 2015

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.

Brinckmann A et al.

Electrophoresis, 2007

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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."