Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A8
Variant:p.E233G
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SLC38A8

NM_001080442.3:p.E233G

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

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

Jackson D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."