Associated Papers
A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in-frame deletion.
Miyake N et al.
Clinical Genetics, 2021
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Ashikov A et al.
Human Molecular Genetics, 2018
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