Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y2642_L2643insFs
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NF1

NM_001042492.3:p.Y2642_L2643insFs

Associated Papers

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

Kluwe L et al.

Human Mutation, 2002

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R et al.

American Journal of Human 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."