Varaico: Literature-Extracted Genetic Variants

Gene:GRM6
Variant:p.V513M
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GRM6

NM_000843.4:p.V513M

Associated Papers

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Xing D et al.

Bmc Ophthalmology, 2022

35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM6_ESM.xlsx › SelectedGene

A Vietnamese human genetic variation database.

Le VS et al.

Human Mutation, 2019

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P et al.

Translational Vision Science & Technology, 2019

31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE

Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.

Wang Q et al.

International Journal of Molecular Medicine, 2012

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

Sergouniotis PI et al.

Acta Ophthalmologica, 2012

Sequence variations of GRM6 in patients with high myopia.

Xu X 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."