Varaico: Literature-Extracted Genetic Variants

Gene:PSD
Variant:p.R297C
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PSD

NM_002779.5:p.R297C

Associated Papers

EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.

Lo J et al.

Frontiers in Physiology, 2022

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.

Bandulik S et al.

Pflugers Archiv : European Journal of Physiology, 2011

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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."