Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.N1840K
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NF1

NM_000267.3:p.N1840K

Associated Papers

Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels.

Rodari G et al.

Italian Journal of Pediatrics, 2025

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches.

Chen J et al.

Journal of Molecular Neuroscience : Mn, 2024

39373898 (PubMed )
Supplement: 12031_2024_2271_MOESM1_ESM.docx

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G et al.

Cancers, 2019

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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."