Associated Papers
Novel pathogenic variants of SLC38A8 gene and literature review.
Ren X et al.
European Journal of Ophthalmology, 2024
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.
Schiff ER et al.
International Journal of Molecular Sciences, 2021
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Kuht HJ et al.
Human Molecular Genetics, 2020
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