Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A14
Variant:p.V390G
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SLC7A14

NM_020949.3:p.V390G

Associated Papers

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Cortinhal T et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 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."