Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF6
Variant:p.Q99_V100Splc
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NDUFAF6

NM_152416.4:p.Q99_V100Splc

Associated Papers

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Hartmannová H et al.

Human Molecular Genetics, 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."