Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.P540P
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OGA

NM_012215.5:p.P540P

Associated Papers

Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.

Berger J 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."