Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I33M
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GJB1

NM_000166.6:p.I33M

Associated Papers

Investigating oligodendrocyte connexins: Heteromeric interactions between Cx32 and mutant or wild-type forms of Cx47 do not contribute to or modulate gap junction function.

Abrams CK et al.

Glia, 2021

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Orthmann-Murphy JL et al.

Brain : a Journal of Neurology, 2009

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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."