Associated Papers
GOLPH3 and GOLPH3L maintain Golgi localization of LYSET and a functional mannose 6-phosphate transport pathway.
Brauer BK et al.
The Embo Journal, 2024
39587297 (PubMed )
Supplement: 44318_2024_305_MOESM1_ESM.pdf
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.
Ain NU et al.
Human Mutation, 2021
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