Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.I2264insFs
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NF1

NM_001042492.3:p.I2264insFs

Associated Papers

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R et al.

American Journal of Human Genetics, 2000

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

Hoffmeyer S et al.

American Journal of Human Genetics, 1998

New evidence for a mutation hotspot in exon 37 of the NF1 gene.

Böddrich A et al.

Human Mutation, 1997

Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.

Upadhyaya M et al.

American Journal of Medical Genetics, 1996

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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."