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
NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree.
Li L et al.
Journal of Ovarian Research, 2020
32312275 (PubMed )
Supplement: 13048_2020_645_MOESM4_ESM.xlsx › Supp_Table_1
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