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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNV2

Variant:p.D498_Y499insC

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KCNV2

NM_133497.4:p.D498_Y499insC

hg38:chr9:2729581 G>GNNN

Associated Papers

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.

Ritter M et al.

The British Journal of Ophthalmology, 2013

23143909 (PubMed )

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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."