Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.S1867F
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EYS

NM_001142800.2:p.S1867F

Associated Papers

Mutations in AGBL5 associated with Retinitis pigmentosa.

Paredes DI et al.

Ophthalmic Genetics, 2024

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Wang J et al.

Investigative Ophthalmology & Visual Science, 2014

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM et al.

Plos One, 2014

25133751 (PubMed )
Supplement: pone.0104281.s001.pdf
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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."