Associated Papers
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome.
Theis JL et al.
Elife, 2020
33006316 (PubMed )
Supplement: elife-59554-supp3.xlsx › Sheet1
Select a paper to view details