Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1ANB-GUCA1A
Variant:p.E111V
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GUCA1ANB-GUCA1A

NM_001384910.1:p.E111V

Associated Papers

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.

Marino V et al.

Human Molecular Genetics, 2018

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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."