Varaico: Literature-Extracted Genetic Variants

Gene:GRM6
Variant:p.G756D
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GRM6

NM_000843.4:p.G756D

Associated Papers

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

Pindwarawala M et al.

Life Science Alliance, 2025

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

Katta M et al.

Ophthalmology. Retina, 2024

38522615 (PubMed )
Supplement: mmc11.pdf

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

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

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.

Naeem MA et al.

Molecular Vision, 2015

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

Malaichamy S et al.

Molecular Vision, 2014

Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.

Godara P et al.

American Journal of Ophthalmology, 2012

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

Sergouniotis PI et al.

Acta Ophthalmologica, 2012

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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."