Associated Papers
Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.
Pindwarawala M et al.
Life Science Alliance, 2025
Whole-exome sequencing identifies high-confidence genes for tic disorders in a Chinese Han population.
Lu Q et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness.
Bai D et al.
Heliyon, 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
Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.
Liu HY et al.
Molecular Genetics & Genomic Medicine, 2019
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