Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y1292fs
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NF1

NM_001042492.3:p.Y1292fs

Associated Papers

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Leier A et al.

Molecular Therapy. Nucleic Acids, 2022

35433111 (PubMed )
Supplement: mmc1.pdf

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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