Varaico: Literature-Extracted Genetic Variants

Gene:ZNF518B
Variant:p.H448R
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ZNF518B

NM_053042.3:p.H448R

Associated Papers

Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.

Kuniyoshi K et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2015

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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."