Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L604V
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NF1

NM_001042492.3:p.L604V

Associated Papers

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

Wang Q et al.

Human Genetics, 2003

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."