Varaico: Literature-Extracted Genetic Variants

Gene:ACACA
Variant:p.Q105L
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ACACA

NM_198834.3:p.Q105L

Associated Papers

Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.

Draghia R et al.

Human Mutation, 1997

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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."