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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCD4

Variant:p.G426A

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ABCD4

NM_005050.4:p.G426A

hg38:chr14:74290341 C>G

Associated Papers

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

Fettelschoss V et al.

The Journal of Biological Chemistry, 2017

28572511 (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."