Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.L3468V
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MDN1

NM_014611.3:p.L3468V

Associated Papers

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.

Pillai NR et al.

American Journal of Medical Genetics. Part A, 2019

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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."