Varaico: Literature-Extracted Genetic Variants

Gene:UTRN
Variant:p.K39E
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UTRN

NM_007124.3:p.K39E

Associated Papers

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.

Lhuissier C et al.

Frontiers in Neurology, 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."