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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCD4

Variant:p.E549Q

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ABCD4

NM_005050.4:p.E549Q

hg38:chr14:74286808 C>G

Associated Papers

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.

Coelho D et al.

Nature Genetics, 2012

22922874 (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."