Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.F1247I
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NF1

NM_001042492.3:p.F1247I

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.

Bendova S et al.

Journal of Molecular Neuroscience : Mn, 2007

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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."