Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A7
Variant:p.Q172*
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SLC10A7

NM_001317816.2:p.Q172*

Associated Papers

SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.

Durin Z et al.

Human Genetics, 2022

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Dubail J et al.

Nature Communications, 2018

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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."