Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.L122P
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MLYCD

NM_012213.3:p.L122P

Associated Papers

A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review.

Zhao C et al.

Frontiers in Pediatrics, 2023

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

Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.

Snanoudj S et al.

International Journal of Molecular Sciences, 2021

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.

Chapel-Crespo C et al.

Molecular Genetics and Metabolism, 0

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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."