Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.G96_Q97Splc
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NF1

NM_001042492.3:p.G96_Q97Splc

Associated Papers

Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.

Martorana D et al.

European Journal of Medical Genetics, 2023

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."