Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ12
Variant:p.E430G
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KCNJ12

NM_021012.5:p.E430G

Associated Papers

Mutational landscape of inflammatory breast cancer.

Bertucci F et al.

Journal of Translational Medicine, 2024

38637846 (PubMed )
Supplement: 12967_2024_5198_MOESM3_ESM.xlsx › Table_S3

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

Nazarenko MS et al.

International Journal of Molecular Sciences, 2022

36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Strom SP et al.

Plos One, 2016

26964041 (PubMed )
Supplement: pone.0150944.s003.xls › Sheet1

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

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T et al.

Plos One, 2013

24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1

Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.

Dassau L et al.

The Journal of Biological Chemistry, 2011

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."