Associated Papers
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 2020
32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS43
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
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
Sergouniotis PI et al.
Acta Ophthalmologica, 2012
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.
Zeitz C et al.
Human Mutation, 2007
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
Zeitz C et al.
Investigative Ophthalmology & Visual Science, 2005
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