Varaico: Literature-Extracted Genetic Variants

Gene:GRM7
Variant:p.R658Q
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GRM7

NM_000844.4:p.R658Q

Associated Papers

GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration: Systematic review of GRM7 deficient patients.

Zaki-Dizaji M et al.

Brain, Behavior, & Immunity - Health, 2024

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

GRM7-related disorder: five additional patients from three independent families and review of the literature.

Januel L et al.

European Journal of Medical Genetics, 2024

GRM7 gene mutations and consequences for neurodevelopment.

Freitas GA et al.

Pharmacology, Biochemistry, and Behavior, 2023

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity.

Jdila MB et al.

Orphanet Journal of Rare Diseases, 2021

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

Marafi D et al.

Annals of Clinical and Translational Neurology, 2020

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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."