Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E547_A548Splc
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NF1

NM_001042492.3:p.E547_A548Splc

Associated Papers

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6

Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Kang E et al.

Orphanet Journal of Rare Diseases, 2022

Identification of MAP kinase pathways as therapeutic targets in gallbladder carcinoma using targeted parallel sequencing.

Li M et al.

Oncotarget, 2017

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

Laycock-van Spyk S et al.

Human Genomics, 2011

Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.

Wiest V et al.

Human Mutation, 2003

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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."