Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.V1398D
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NF1

NM_000267.3:p.V1398D

Associated Papers

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

Thomas L et al.

Human Mutation, 2012

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

Wang Q et al.

Human Genetics, 2003

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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."