Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.M643delFs
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NF1

NM_001042492.3:p.M643delFs

Associated Papers

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas.

Li H et al.

Plos One, 2026

snRNA-seq of human cutaneous neurofibromas before and after selumetinib treatment implicates role of altered Schwann cell states, inter-cellular signaling, and extracellular matrix in treatment response.

Church C et al.

Acta Neuropathologica Communications, 2024

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Leier A et al.

Molecular Therapy. Nucleic Acids, 2022

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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."