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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUCA1B

Variant:p.V146M

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GUCA1B

NM_002098.6:p.V146M

hg38:chr6:42185719 C>T

Associated Papers

Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.

Pennesi ME et al.

American Journal of Ophthalmology, 2026

41052569 (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."