Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L1541_N1542del2
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NF1

NM_000267.3:p.L1541_N1542del2

Associated Papers

High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.

Kim J et al.

The Journal of Molecular Diagnostics : Jmd, 2026

High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.

Idrissova Z et al.

Genes, 2025

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Giugliano T et al.

Genes, 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."