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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCD4

Variant:p.Y319F

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ABCD4

NM_005050.4:p.Y319F

hg38:chr14:74292623 T>A

Associated Papers

The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro.

Kitai K et al.

The Journal of Biological Chemistry, 0

33845046 (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."