Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R997Splc
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NF1

NM_001042492.3:p.R997Splc

Associated Papers

Segmental spinal neurofibromatosis 1: a novel phenotype.

Fatima N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C et al.

Genes, 2021

34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants
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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."