Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K2252_A2253Splc
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NF1

NM_000267.3:p.K2252_A2253Splc

Associated Papers

Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View.

Jang W et al.

International Journal of Genomics, 2022

36275637 (PubMed )
Supplement: 5265686.f1.docx

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

Wimmer K et al.

Human Mutation, 2020

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