Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.D336A
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ABCD4

NM_005050.4:p.D336A

Associated Papers

Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transport.

Imai M et al.

Journal of Inherited Metabolic Disease, 2024

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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."