Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.K134del1
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GJA1

NM_000165.5:p.K134del1

Associated Papers

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

Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.

Sargiannidou I et al.

Frontiers in Genetics, 2020

[Neurological presentations of oculodentodigital dysplasia].

Rudenskaya GE et al.

Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 0

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