Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ12
Variant:p.E56A
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KCNJ12

NM_021012.5:p.E56A

Associated Papers

Contribution of Asian Haplotype of KCNJ18 to Susceptibility to and Ethnic Differences in Thyrotoxic Periodic Paralysis.

Noso S et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Zeltner N et al.

Nature Medicine, 2016

27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants

Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Gu Q et al.

Oncotarget, 2015

26062443 (PubMed )
Supplement: oncotarget-06-20160-s004.xlsx › Sheet1

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Friedrich C et al.

Embo Molecular Medicine, 2014

24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

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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."