Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.E155A
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GUCA1A

NM_001384910.1:p.E155A

Associated Papers

Missense mutations affecting Ca2+-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties.

Dal Cortivo G et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2020

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

Manes G et al.

Molecular Vision, 2017

RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations.

Jiang L et al.

Frontiers in Molecular Neuroscience, 2014

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."