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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUCA1A

Variant:p.F42I

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GUCA1A

NM_001384910.1:p.F42I

hg38:chr6:42173737 T>A

Associated Papers

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.

Mizobuchi K et al.

Scientific Reports, 2019

31728034 (PubMed )

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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."