Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1ANB-GUCA1A
Variant:p.T114I
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GUCA1ANB-GUCA1A

NM_001384910.1:p.T114I

Associated Papers

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.

Manes G et al.

Molecular Vision, 2017

Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy.

Huang L et al.

Neuroscience Letters, 2013

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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."