Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S1282_K1290delFs
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NF1

NM_001042492.3:p.S1282_K1290delFs

Associated Papers

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Paterra R et al.

Cancers, 2022

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment.

Pros E et al.

European Journal of Human Genetics : Ejhg, 2010

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Pros E et al.

Human Mutation, 2008

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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."