Varaico: Literature-Extracted Genetic Variants

Gene:SLCO6A1
Variant:p.K144R
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SLCO6A1

NM_173488.5:p.K144R

Associated Papers

Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.

Tang S et al.

Molecular Vision, 2019

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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."