Varaico: Literature-Extracted Genetic Variants

Gene:CNGB3
Variant:p.M492_L493insT
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CNGB3

NM_019098.5:p.M492_L493insT

Associated Papers

A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

Rojas CV et al.

European Journal of Human Genetics : Ejhg, 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."