Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA12
Variant:p.E41fs
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NDUFA12

NM_018838.5:p.E41fs

Associated Papers

Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.

Magrinelli F et al.

Movement Disorders Clinical Practice, 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."