Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R1325T
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NF1

NM_001042492.3:p.R1325T

Associated Papers

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

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

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

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

Accetturo M et al.

International Journal of Molecular Sciences, 2020

31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3

Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient.

Fu Y et al.

The Journal of Dermatology, 2018

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Stella A et al.

Genes, 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."