Varaico: Literature-Extracted Genetic Variants

Gene:GLRA2
Variant:p.R252C
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GLRA2

NM_002063.4:p.R252C

Associated Papers

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

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Marcogliese PC et al.

Cell Reports, 2022

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders.

Chen X et al.

Frontiers in Molecular Neuroscience, 2022

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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."