Associated Papers
KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome.
Gensemer C et al.
Iscience, 2025
40949095 (PubMed )
Supplement: mmc1.pdf
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O et al.
Npj Genomic Medicine, 2023
37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-68GA
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