Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.E547_A548Splc
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NF1

NM_001042492.3:p.E547_A548Splc

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

Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome.

Gasparotto D et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

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