Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K1750del1
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NF1

NM_000267.3:p.K1750del1

Associated Papers

[Neurofibromin - protein structure and cellular functions in the context of neurofibromatosis type I pathogenesis].

Abramowicz A et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2015

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

Welti S et al.

Human Mutation, 2011

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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."