Varaico: Literature-Extracted Genetic Variants

Gene:GRM1
Variant:p.G240*
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GRM1

NM_001278064.2:p.G240*

Associated Papers

Identification of a Novel GRM1 Frameshift Variant in Two Pakistani Families Broadens the Genetic Landscape of Ultra-Rare Spinocerebellar Ataxia Type 13.

Ahmad R et al.

Cerebellum (london, England), 2025

Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability.

Protasova MS et al.

International Journal of Molecular Sciences, 2023

36675067 (PubMed )
Supplement: ijms-24-01551-s001.zip › Supplemental_Table_S1.xlsx › Table_S1

A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family.

Yousaf H et al.

Genes, 2022

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