Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E1264*
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NF1

NM_001042492.3:p.E1264*

Associated Papers

POLE exonuclease domain mutations in endometrial carcinoma: a case report.

Pasciuto MP et al.

Pathologica, 2023

Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.

Zaki MM et al.

Scientific Reports, 2021

Neuroblastoma Risk Assessment and Treatment Stratification with Hybrid Capture-Based Panel Sequencing.

Szymansky A et al.

Journal of Personalized Medicine, 2021

34442335 (PubMed )
Supplement: jpm-11-00691-s001.zip › S11-SNVs_reference_cohort.xlsx › Tabelle1

Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.

Hazan F et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Boot A et al.

Genome Research, 2020

32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1
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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."