Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.G1277R
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NF1

NM_001042492.3:p.G1277R

Associated Papers

Biomarker Landscape in RASopathies.

Ferrito N et al.

International Journal of Molecular Sciences, 2024

39201250 (PubMed )
Supplement: ijms-25-08563-s001.zip › ijms-3118150-supplementary.pdf

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.

Douben H et al.

Human Mutation, 2023

Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP.

Ahmadian MR et al.

Journal of Molecular Biology, 2003

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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."