Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.I179L
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AICDA

NM_020661.4:p.I179L

Associated Papers

Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.

Halsall DJ et al.

Human Mutation, 1999

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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."