Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ12
Variant:p.E334del1
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KCNJ12

NM_021012.5:p.E334del1

Associated Papers

Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing.

Chen S et al.

Human Genomics, 2022

Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2.

Zhou B et al.

Nucleic Acids Research, 2019

30864654 (PubMed )
Supplement: gkz169_supplemental_files.zip › Table_S5_-_HepG2___COSMIC_Overlap.xlsx › Indels

Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy.

Yuan HX et al.

Medicine, 2017

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

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_early_met_1

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › Pindel

[Association between LMNA mutation and familial and idiopathic dilated cardiomyopathy patients in Xinjiang].

Sun S et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2014

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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."