Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.I457F
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SLC6A8

NM_005629.4:p.I457F

Associated Papers

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Ferdinandusse S et al.

American Journal of Human Genetics, 2006

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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."