Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.S213fs
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CRX

NM_000554.6:p.S213fs

Associated Papers

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.

Al-Khuzaei S et al.

Bmc Ophthalmology, 2021

Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.

Nishiguchi KM et al.

Clinical & Experimental Ophthalmology, 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."