Varaico: Literature-Extracted Genetic Variants

Gene:GRID2
Variant:p.D177fs
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GRID2

NM_001510.4:p.D177fs

Associated Papers

De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation.

Sartorelli J et al.

Cerebellum (london, England), 2024

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.

Ceylan AC et al.

Acta Neurologica Belgica, 2021

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.

Hills LB et al.

Neurology, 2013

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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."