Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.I108V
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AICDA

NM_020661.4:p.I108V

Associated Papers

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.

Waters PJ et al.

Human Mutation, 1998

PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.

Knappskog PM et al.

Human Mutation, 1996

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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."