Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ18
Variant:p.T290M
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KCNJ18

NM_001194958.2:p.T290M

Associated Papers

Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.

Zhong H et al.

Frontiers in Microbiology, 2026

41716284 (PubMed )
Supplement: Supplementary_file_2.xlsx › Table_S1

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

Zhang Y et al.

Journal of Clinical Laboratory Analysis, 2022

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

Whole Genome Sequencing of Newly Established Pancreatic Cancer Lines Identifies Novel Somatic Mutation (c.2587G>A) in Axon Guidance Receptor Plexin A1 as Enhancer of Proliferation and Invasion.

Sorber R et al.

Plos One, 2016

26962861 (PubMed )
Supplement: pone.0149833.s007.xlsx › S4_Table

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
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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."