Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ18
Variant:p.E333del1
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KCNJ18

NM_001194958.2:p.E333del1

Associated Papers

Identification of potential pathogenic genes for severe aplastic anemia by whole-exome sequencing.

Zhang Y et al.

Journal of Clinical Laboratory Analysis, 2022

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM6_ESM.xlsx › Sheet1

Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562.

Zhou B et al.

Genome Research, 2019

30737237 (PubMed )
Supplement: supp_gr.234948.118_Supplemental_Table_S6.xlsx › Indels

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

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_2_late_met_1
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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."