Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.L11I
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GJA1

NM_000165.5:p.L11I

Associated Papers

Structure of the connexin-43 gap junction channel in a putative closed state.

Qi C et al.

Elife, 2023

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-2_Final_021921.xlsx › Table_S3.2

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

A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.

Porntaveetus T et al.

Oral Diseases, 2017

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Jamsheer A et al.

Journal of Applied Genetics, 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."