Varaico: Literature-Extracted Genetic Variants

Gene:NRDC
Variant:p.M636delFs
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NRDC

NM_002525.3:p.M636delFs

Associated Papers

Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures.

Fatehi F et al.

American Journal of Medical Genetics. Part A, 2025

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.

Yoon WH et al.

Neuron, 2017

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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."