Varaico: Literature-Extracted Genetic Variants

Gene:GRIA2
Variant:p.V647L
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GRIA2

NM_001083619.3:p.V647L

Associated Papers

Rescuing Neurodevelopmental Deficits in AMPA Receptor Gain-of-Function Mutant.

Chen CM et al.

Biorxiv : the Preprint Server for Biology, 2025

Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report.

Cai Q et al.

Bmc Pediatrics, 2022

Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.

Alkelai A et al.

Journal of Human Genetics, 2021

Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment.

Zhou B et al.

Frontiers in Genetics, 2021

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V et al.

Nature Communications, 2019

[A novel missense mutation in MIP gene resulted in polymorphic cataract].

Lin H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008

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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."