Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.S194F
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PLP1

NM_000533.5:p.S194F

Associated Papers

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Schwartz CE et al.

American Journal of Human Genetics, 2005

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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."