Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.S187L
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MLYCD

NM_012213.3:p.S187L

Associated Papers

Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review.

Xu F et al.

Frontiers in Medicine, 2023

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

Wightman PJ et al.

Human Mutation, 2003

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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."