Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.I1939insFs
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NF1

NM_001042492.3:p.I1939insFs

Associated Papers

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

Molecular genetics of neurofibromatosis type 1 (NF1).

Shen MH et al.

Journal of Medical Genetics, 1996

Two single base polymorphisms in introns 41 and 16 of the NF1 gene.

Shen MH et al.

American Journal of Medical Genetics, 1995

Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool.

Elyakim S et al.

American Journal of Medical Genetics, 1994

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.

Purandare SM et al.

Human Molecular Genetics, 1994

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene.

Upadhyaya M et al.

Human Mutation, 1994

Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis.

Zhong J et al.

Human Molecular Genetics, 1993

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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."