Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S52delFs
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NF1

NM_001042492.3:p.S52delFs

Associated Papers

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

Koster R et al.

Npj Genomic Medicine, 2021

34782607 (PubMed )
Supplement: 41525_2021_258_MOESM5_ESM.xlsx › replication_raw_data

Chemosensitivity of Patient-Derived Cancer Stem Cells Identifies Colorectal Cancer Patients with Potential Benefit from FGFR Inhibitor Therapy.

Yamamoto T et al.

Cancers, 2020

32708005 (PubMed )
Supplement: cancers-12-02010-s001.pdf

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Castellanos E et al.

Scientific Reports, 2017

28051113 (PubMed )
Supplement: srep39348-s1.pdf

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.

Xu W et al.

International Journal of Molecular Medicine, 2014

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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."