Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L194delFs
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NF1

NM_001042492.3:p.L194delFs

Associated Papers

Children with 5'-end NF1 gene mutations are more likely to have glioma.

Anastasaki C et al.

Neurology. Genetics, 2017

28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf

Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.

Welander J et al.

Human Molecular Genetics, 2012

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Pros E et al.

Human Mutation, 2008

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

Ars E et al.

Journal of Medical Genetics, 2003

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

Ars E et al.

Human Molecular Genetics, 2000

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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."