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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFA12

Variant:p.K132R

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NDUFA12

NM_018838.5:p.K132R

hg38:chr12:94971483 T>C

Associated Papers

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Torraco A et al.

Human Mutation, 2021

33715266 (PubMed )

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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."