Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.K287R
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GJA1

NM_000165.5:p.K287R

Associated Papers

Clinical genome sequencing in patients with suspected rare genetic disease in Peru.

Bazalar-Montoya J et al.

Npj Genomic Medicine, 2024

39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants

Connexin-43 K63-polyubiquitylation on lysines 264 and 303 regulates gap junction internalization.

Kells-Andrews RM et al.

Journal of Cell Science, 2018

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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."