Associated Papers
Novel pathogenic variants of SLC38A8 gene and literature review.
Ren X et al.
European Journal of Ophthalmology, 2024
38515398 (PubMed )
Supplement: sj-xlsx-1-ejo-10.1177_11206721241242155.xlsx › Supplementary_table_2
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC et al.
Investigative Ophthalmology & Visual Science, 2022
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.
Schiff ER et al.
International Journal of Molecular Sciences, 2021
33498813 (PubMed )
Supplement: ijms-22-01130-s001.zip › Table_S1_SLC38A8_Schiff_et_al.21122020.xlsx › Sheet1
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Kuht HJ et al.
Human Molecular Genetics, 2020
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.
Weiner C et al.
Experimental Eye Research, 2020
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
The Genetics of Bene Israel from India Reveals Both Substantial Jewish and Indian Ancestry.
Waldman YY et al.
Plos One, 2016
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
Perez Y et al.
European Journal of Human Genetics : Ejhg, 2014
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