Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.V274L
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GJC2

NM_020435.4:p.V274L

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG44

Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.

Ghasemi A et al.

Molecular Syndromology, 2023

Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.

Kuipers DJS et al.

Parkinsonism & Related Disorders, 2019

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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."