Associated Papers
Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.
Li X et al.
Investigative Ophthalmology & Visual Science, 2025
The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders.
Fraser SD et al.
Frontiers in Molecular Neuroscience, 2025
40007572 (PubMed )
Supplement: Table_1.docx
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
Mir A et al.
Bmc Medical Genomics, 2023
GLRA2 gene mutations cause high myopia in humans and mice.
Tian Q et al.
Journal of Medical Genetics, 2023
Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders.
Chen X et al.
Frontiers in Molecular Neuroscience, 2022
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
Wong WR et al.
Human Molecular Genetics, 2019
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
29575536 (PubMed )
Supplement: GCC-57-366-s003.xlsx › MSS
Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function.
Zhang Y et al.
Frontiers in Molecular Neuroscience, 2017
Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.
Pilorge M et al.
Molecular Psychiatry, 2016
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