Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L180_Q181insFs
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NF1

NM_001042492.3:p.L180_Q181insFs

Associated Papers

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

Griffiths S et al.

Familial Cancer, 2007

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

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

Toliat MR et al.

Electrophoresis, 2000

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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."