Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R160Splc
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NF1

NM_001042492.3:p.R160Splc

Associated Papers

Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

N Abdel-Aziz N et al.

Molecular Genetics & Genomic Medicine, 2021

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.

Kang E et al.

Journal of Human Genetics, 2020

Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

Varin J et al.

Oncotarget, 2016

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Laycock-van Spyk S et al.

Human Genomics, 2011

Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.

Ellis JR et al.

Genes, Chromosomes & Cancer, 2011

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Upadhyaya M et al.

Human Mutation, 2008

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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."