Varaico: Literature-Extracted Genetic Variants

Gene:CNGB1
Variant:p.R153Splc
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CNGB1

NM_001297.5:p.R153Splc

Associated Papers

Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy.

Abdalla-Elsayed ME et al.

Molecular Vision, 2017

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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."