Varaico: Literature-Extracted Genetic Variants

Gene:NFS1
Variant:p.R412H
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NFS1

NM_021100.5:p.R412H

Associated Papers

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.

Yang JH et al.

Human Mutation, 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."