Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.D140delFs
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ABCD4

NM_005050.4:p.D140delFs

Associated Papers

Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features.

Diogo R et al.

Cureus, 2023

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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."