Varaico: Literature-Extracted Genetic Variants

Gene:NFU1
Variant:p.P183fs
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NFU1

NM_001002755.4:p.P183fs

Associated Papers

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

Ferrer-Cortès X et al.

Mitochondrion, 2016

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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."