Varaico: Literature-Extracted Genetic Variants

Gene:YME1L1
Variant:p.R149W
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YME1L1

NM_014263.4:p.R149W

Associated Papers

Quality control at the powerhouse: mitochondrial proteostasis dysfunction and disease.

Baker MJ et al.

Biochemical Society Transactions, 2025

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.

Demetriadou A et al.

Journal of Inherited Metabolic Disease, 2025

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.

Hartmann B et al.

Elife, 2016

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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."