Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L230ins2
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ABCD1

NM_000033.4:p.L230ins2

Associated Papers

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

Davit-Spraul A et al.

Molecular Genetics and Metabolism, 2008

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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."