Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.T154I
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GJA1

NM_000165.5:p.T154I

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

Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.

van Es RJ et al.

International Journal of Oral and Maxillofacial Surgery, 2007

[Neurological presentations of oculodentodigital dysplasia].

Rudenskaya GE et al.

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

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