Varaico: Literature-Extracted Genetic Variants

Gene:GRM7
Variant:p.W586*
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GRM7

NM_000844.4:p.W586*

Associated Papers

Role of mGluR7 in Alzheimer's disease: pathophysiological insights and therapeutic approaches.

Hunjan G et al.

Inflammopharmacology, 2025

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

Zaki-Dizaji M et al.

Brain, Behavior, & Immunity - Health, 2024

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

Pathogenic GRM7 Mutations Associated with Neurodevelopmental Disorders Impair Axon Outgrowth and Presynaptic Terminal Development.

Song JM et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021

A GRM7 mutation associated with developmental delay reduces mGlu7 expression and produces neurological phenotypes.

Fisher NM et al.

Jci Insight, 2021

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

Marafi D et al.

Annals of Clinical and Translational Neurology, 2020

Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders.

Fisher NM et al.

Frontiers in Molecular Neuroscience, 2018

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 2017

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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."