Varaico: Literature-Extracted Genetic Variants

Gene:POC1B
Variant:p.W38*
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POC1B

NM_172240.3:p.W38*

Associated Papers

Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.

Gupta PR et al.

Molecular Vision, 2022

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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."