Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A2
Variant:p.P251L
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SLC10A2

NM_000452.3:p.P251L

Associated Papers

Homozygosity for a variant in SLC10A2 and infancy onset severe fat-soluble vitamin deficiency due to bile acid malabsorption.

Rungoe C et al.

Jpgn Reports, 2025

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Al-Dewik N et al.

American Journal of Medical Genetics. Part A, 2019

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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."