Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ12
Variant:p.E380K
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KCNJ12

NM_021012.5:p.E380K

Associated Papers

Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.

Misra K et al.

International Journal of Molecular Sciences, 2024

39000354 (PubMed )
Supplement: ijms-25-07248-s001.zip › supplementary_tables.xlsx › Table_S2

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Glentis S et al.

Frontiers in Genetics, 2019

31681433 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_13

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096
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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."