Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.T676fs
Back to variants list

NF1

NM_001042492.3:p.T676fs

Associated Papers

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Ramamoorthy S et al.

British Journal of Haematology, 2024

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Giugliano T et al.

Genes, 2019

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

Esposito T et al.

Journal of Neurochemistry, 2015

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."