Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ12
Variant:p.E239K
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KCNJ12

NM_021012.5:p.E239K

Associated Papers

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s2.xlsx › Sheet1

Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.

Gentien D et al.

Cell Reports, 2023

37708024 (PubMed )
Supplement: NIHMS1933915-supplement-3.xlsx › Supp_table_2

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 › SNPs

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

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

Kennedy H et al.

American Journal of Human Genetics, 2016

27523597 (PubMed )
Supplement: mmc1.pdf

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

The genomic complexity of primary human prostate cancer.

Berger MF et al.

Nature, 2011

21307934 (PubMed )
Supplement: NIHMS257464-supplement-2.xlsx › TABLE_S3
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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."