Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.T1787R
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NF1

NM_000267.3:p.T1787R

Associated Papers

Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin.

Welti S et al.

Human Mutation, 2011

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."