Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R2214Splc
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NF1

NM_000267.3:p.R2214Splc

Associated Papers

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Chelleri C et al.

Human Mutation, 2023

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

NF1 Somatic Mutation in Dystrophic Scoliosis.

Margraf RL et al.

Journal of Molecular Neuroscience : Mn, 2019

Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Izquierdo E et al.

Oncotarget, 2017

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."