Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ12
Variant:p.T140M
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KCNJ12

NM_021012.5:p.T140M

Associated Papers

B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.

Takada S et al.

The Journal of Allergy and Clinical Immunology. Global, 2025

40687947 (PubMed )
Supplement: mmc1.docx

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Fan C et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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."