Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.A2420D
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NF1

NM_000267.3:p.A2420D

Associated Papers

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Napolitano F et al.

Genes, 2022

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

Giugliano T et al.

Genes, 2019

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

Esposito T et al.

Journal of Neurochemistry, 2015

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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."