Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L164_T165delFs
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NF1

NM_001042492.3:p.L164_T165delFs

Associated Papers

Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Wu-Chou YH et al.

Journal of Biomedical Science, 2018

Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

Lee MJ et al.

Human Mutation, 2006

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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."