Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA7
Variant:p.V235M
Back to variants list

SERPINA7

NM_000354.6:p.V235M

Associated Papers

Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8.

Friesema EC et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2006

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

Schwartz CE et al.

American Journal of Human Genetics, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."