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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCD4

Variant:p.K584_F585Splc

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ABCD4

NM_005050.4:p.K584_F585Splc

hg38:chr14:74286541 C>T

Associated Papers

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.

Pillai NR et al.

American Journal of Medical Genetics. Part A, 2021

33729671 (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."