Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.R101L
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GJC2

NM_020435.4:p.R101L

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

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

34445196 (PubMed )
Supplement: ijms-22-08490-s001.zip › Table_S4_revised__2.8.21.xlsx › Sheet1

Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

Di Bella D et al.

European Journal of Neurology, 2021

"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia.

Zittel S et al.

Journal of Neurology, 2012

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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."