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
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Belkadi A et al.
Cell Genomics, 2023
36777185 (PubMed )
Supplement: mmc6.xlsx › Table_S5
Efficient SNP editing in haploid human pluripotent stem cells.
Safier LZ et al.
Journal of Assisted Reproduction and Genetics, 2020
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
Ferkingstad E et al.
Nature Communications, 2018
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