Varaico: Literature-Extracted Genetic Variants

Gene:GUCA2A
Variant:p.D100E
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GUCA2A

NM_033553.3:p.D100E

Associated Papers

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

Kamenarova K et al.

Biomed Research International, 2013

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.

Kitiratschky VB et al.

Human Mutation, 2009

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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."