Associated Papers
Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
Abrams CK
Biomolecules, 2023
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Tosco-Herrera E et al.
Human Mutation, 2022
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
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
Shiels A et al.
American Journal of Human Genetics, 1998
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