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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HADHA

Variant:p.K519E

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HADHA

NM_000182.5:p.K519E

hg38:chr2:26195157 T>C

Associated Papers

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

Mazzaccara C et al.

International Journal of Molecular Sciences, 2021

34072184 (PubMed )

Genetic basis of mitochondrial diseases.

Gusic M et al.

Febs Letters, 2021

33655490 (PubMed )

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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."