Varaico: Literature-Extracted Genetic Variants

Gene:NCDN
Variant:p.V473I
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NCDN

NM_014284.3:p.V473I

Associated Papers

A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.

Nicolas G et al.

Acta Neuropathologica Communications, 2022

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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."