Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.D483delFs
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NF1

NM_001042492.3:p.D483delFs

Associated Papers

Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].

Origone P et al.

Human Mutation, 2003

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

Krkljus S et al.

Human Mutation, 1998

Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1.

Horiuchi T et al.

Human Mutation, 1998

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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."