Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.L334V
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CALHM3

NM_001129742.2:p.L334V

Associated Papers

Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

Hayashi T et al.

Ophthalmology, 2005

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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."