Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A2
Variant:p.C106*
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SLC10A2

NM_000452.3:p.C106*

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

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 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

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s008.xlsx › Sheet1
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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."