Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.K271del1
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GNAT2

NM_001377295.2:p.K271del1

Associated Papers

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Felden J et al.

Human Mutation, 2019

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › LAN6

A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.

Piña AL et al.

Molecular Vision, 2004

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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."