Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L180fs
Back to variants list

NF1

NM_001042492.3:p.L180fs

Associated Papers

The Clinicopathological Features of the Solitary Subependymal Giant Cell Astrocytoma: A Systematic Review.

Piña-Ballantyne SA et al.

Neurology India, 2024

Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Palsgrove DN et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

Bonatti F et al.

International Journal of Molecular Sciences, 2017

28961165 (PubMed )
Supplement: ijms-18-02071-s001.pdf
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."