Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.D668fs
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NF1

NM_001042492.3:p.D668fs

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

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

Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma.

Gutmann DH et al.

Genome Research, 2013

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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."