Associated Papers
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf
Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.
Li X et al.
Molecular Vision, 2021
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.
Kumar V et al.
Case Reports in Ophthalmological Medicine, 2020
32318302 (PubMed )
Supplement: 6535974.f1.xlsx › Sheet1
Structural determinants underlying permeant discrimination of the Cx43 hemichannel.
Nielsen BS et al.
The Journal of Biological Chemistry, 2019
Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.
Tumminelli G et al.
Journal of Alzheimer's Disease : Jad, 2016
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