Varaico: Literature-Extracted Genetic Variants

Gene:GLRA2
Variant:p.K240E
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GLRA2

NM_002063.4:p.K240E

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

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."