Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.A72Fs
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GJC2

NM_020435.4:p.A72Fs

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

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Ji H et al.

Plos One, 2018

Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.

Wang J et al.

Brain & Development, 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."