Associated Papers
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
Zhang W et al.
Orphanet Journal of Rare Diseases, 2023
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.
Durin Z et al.
Human Genetics, 2022
Functional Analysis of Rare Genetic Variants in the Negative Regulator of Intracellular Calcium Signaling RCAS/SLC10A7.
Wannowius M et al.
Frontiers in Molecular Biosciences, 2021
The orphan solute carrier SLC10A7 is a novel negative regulator of intracellular calcium signaling.
Karakus E et al.
Scientific Reports, 2020
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Laugel-Haushalter V et al.
Frontiers in Genetics, 2019
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