Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R160Splc
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NF1

NM_001042492.3:p.R160Splc

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

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

32126153 (PubMed )
Supplement: HUMU-41-1145-s001.xlsx › Suppl._Table_S1
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