Varaico: Literature-Extracted Genetic Variants

Gene:GRM6
Variant:p.Q697L
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GRM6

NM_000843.4:p.Q697L

Associated Papers

Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.

Pindwarawala M et al.

Life Science Alliance, 2025

The mGluR6 ligand-binding domain, but not the C-terminal domain, is required for synaptic localization in retinal ON-bipolar cells.

Agosto MA et al.

The Journal of Biological Chemistry, 2021

34793838 (PubMed )
Supplement: mmc1.pdf

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.

Sergouniotis PI et al.

Acta Ophthalmologica, 2012

Genotyping microarray for CSNB-associated genes.

Zeitz C et al.

Investigative Ophthalmology & Visual Science, 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."