Associated Papers
Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach.
Huang HYR et al.
Jhep Reports : Innovation in Hepatology, 2025
39687601 (PubMed )
Supplement: mmc1.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133
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