EXT1
NM_000127.3:p.K218fs
Gnoli M et al.
Orphanet Journal of Rare Diseases, 2024
Loberti L et al.
Human Molecular Genetics, 2022
Warrick JI et al.
Scientific Reports, 2022
Li Y et al.
Medicine, 2018
Santos SCL et al.
Molecular Genetics & Genomic Medicine, 2018