Varaico: Literature-Extracted Genetic Variants

Gene:OPTC
Variant:p.R164L
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OPTC

NM_014359.4:p.R164L

Associated Papers

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

An evaluation of OPTC and EPYC as candidate genes for high myopia.

Wang P et al.

Molecular Vision, 2009

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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."