Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.H1316Y
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NF1

NM_001042492.3:p.H1316Y

Associated Papers

SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis.

Micaglio E et al.

Frontiers in Genetics, 2019

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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."