Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L507fs
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NF1

NM_001042492.3:p.L507fs

Associated Papers

Somatic Genomic and Transcriptomic Characterization of Primary Ovarian Serous Borderline Tumors and Low-Grade Serous Carcinomas.

Stružinská I et al.

The Journal of Molecular Diagnostics : Jmd, 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

Multiple Intraspinal Gangliogliomas in a Child With Neurofibromatosis Type 1: Case Report and Literature Review.

Morales E et al.

Journal of Pediatric Hematology/oncology, 2021

The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.

Pemov A et al.

Oncogene, 2017

Desmoplastic melanoma with sarcomatoid dedifferentiation.

Kiuru M et al.

The American Journal of Surgical Pathology, 2014

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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."