Varaico: Literature-Extracted Genetic Variants

Gene:PXDNL
Variant:p.P46L
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PXDNL

NM_144651.5:p.P46L

Associated Papers

Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.

Melgari D et al.

International Journal of Molecular Sciences, 2023

Exome-based mutation screening in South African children with primary congenital glaucoma.

Carstens N et al.

Eye (london, England), 2023

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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."