Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A12
Variant:p.H6R
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SLC16A12

NM_213606.4:p.H6R

Associated Papers

Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.

Ma X et al.

Scientific Reports, 2017

Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.

Zhou Z et al.

Molecular Vision, 2011

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

Zuercher J et al.

Investigative Ophthalmology & Visual Science, 2010

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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."