Varaico: Literature-Extracted Genetic Variants

Gene:CNGA1
Variant:p.R28Q
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CNGA1

NM_001379270.1:p.R28Q

Associated Papers

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.

Paloma E et al.

Journal of Medical Genetics, 2002

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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."