Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.M1L
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SLC16A2

NM_006517.5:p.M1L

Associated Papers

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

Minireview: thyroid hormone transporters: the knowns and the unknowns.

Visser WE et al.

Molecular Endocrinology (baltimore, Md.), 2011

Genetics and phenomics of thyroid hormone transport by MCT8.

Friesema EC et al.

Molecular and Cellular Endocrinology, 2010

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

Frints SG et al.

European Journal of Human Genetics : Ejhg, 2008

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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."