Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R1241Q
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NF1

NM_001042492.3:p.R1241Q

Associated Papers

Characterizing neurofibromin 1-altered breast cancer through genomic, functional, and clinical analyses.

Mao X et al.

Virchows Archiv : an International Journal of Pathology, 2025

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

Resistance to TRK inhibition mediated by convergent MAPK pathway activation.

Cocco E et al.

Nature Medicine, 2019

31406350 (PubMed )
Supplement: NIHMS1533563-supplement-1.xlsx › Patient_2

Primary progressive multiple sclerosis and neurofibromatosis type 1.

Iwanowski P et al.

Multiple Sclerosis and Related Disorders, 2019

HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples.

Moens LN et al.

The Journal of Molecular Diagnostics : Jmd, 2015

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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."