Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.R125Q
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GJC2

NM_020435.4:p.R125Q

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

Cx47 fine-tunes the handling of serum lipids but is dispensable for lymphatic vascular function.

Meens MJ et al.

Plos One, 2017

GJC2 missense mutations cause human lymphedema.

Ferrell RE et al.

American Journal of Human Genetics, 2010

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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."