Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L1301R
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NF1

NM_001042492.3:p.L1301R

Associated Papers

Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.

Nokchan N et al.

Journal of Personalized Medicine, 2024

39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S5.xlsx › Supplementary_Table_S5.

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

Thomas L et al.

Human Mutation, 2012

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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."