Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K1750E
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NF1

NM_000267.3:p.K1750E

Associated Papers

Rare variants modulating phenotype in NF1 carriers.

Pasquinelli E et al.

Scientific Reports, 2025

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

Rodari G et al.

Italian Journal of Pediatrics, 2025

An Atypical Mechanism of SUMOylation of Neurofibromin SecPH Domain Provides New Insights into SUMOylation Site Selection.

Bergoug M et al.

Journal of Molecular Biology, 2024

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.

Zuo Z et al.

Biology, 2022

36671709 (PubMed )
Supplement: biology-12-00013-s001.zip › biology-2072813-supplementary.xlsx › Suppl_tbl_Vaf
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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."