Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.C1365*
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NF1

NM_001042492.3:p.C1365*

Associated Papers

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

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Laycock-van Spyk S et al.

Human Genomics, 2011

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Upadhyaya M et al.

Human Mutation, 2008

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

Kluwe L et al.

Human Mutation, 2002

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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."