Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.N1278T
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NF1

NM_001042492.3:p.N1278T

Associated Papers

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM11_ESM.xlsx › Supplementary_Data_8

Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP.

Ahmadian MR et al.

Journal of Molecular Biology, 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."