Varaico: Literature-Extracted Genetic Variants

Gene:MADD
Variant:p.L174P
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MADD

NM_001376571.1:p.L174P

Associated Papers

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Maguolo A et al.

Molecular Genetics and Metabolism Reports, 2020

32793418 (PubMed )
Supplement: mmc2.xlsx › Foglio1
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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."