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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ECI1

Variant:p.M1R

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ECI1

NM_001919.4:p.M1R

hg38:chr16:2251565 A>C

Associated Papers

Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.

Burgin HJ et al.

Febs Letters, 2020

31944285 (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."