Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.A2237insFs
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NF1

NM_001042492.3:p.A2237insFs

Associated Papers

Four frameshift mutations in neurofibromatosis type 1 caused by small insertions.

Colman SD et al.

Journal of Medical Genetics, 1997

Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs.

Rodenhiser D et al.

Oncogene, 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."