Varaico: Literature-Extracted Genetic Variants

Gene:CNGB1
Variant:p.E994*
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CNGB1

NM_001297.5:p.E994*

Associated Papers

CNGB1-related rod-cone dystrophy: A mutation review and update.

Nassisi M et al.

Human Mutation, 2021

Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa.

Afshar F et al.

Eye (london, England), 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."