Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L585fs
Back to variants list

NF1

NM_001042492.3:p.L585fs

Associated Papers

The development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.

Shirai Y et al.

Journal of Neuro-oncology, 2024

38363490 (PubMed )
Supplement: 11060_2024_4563_MOESM1_ESM.xlsx › Supplementary_Data_2

Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1.

Chai P et al.

Bmc Medical Genetics, 2019

Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Wu-Chou YH et al.

Journal of Biomedical Science, 2018

Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.

Mao B et al.

Bmc Medical Genetics, 2018

Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

Lee MJ et al.

Human Mutation, 2006

Two Different NF1 Pathogenic Variants in a Family With Neurofibromatosis Type 1.

Hartung TI et al.

Cancer Genomics & Proteomics, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."