Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD18A
Variant:p.E130K
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ANKRD18A

NM_147195.4:p.E130K

Associated Papers

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

Host genetic variation impacts microbiome composition across human body sites.

Blekhman R et al.

Genome Biology, 2015

26374288 (PubMed )
Supplement: 13059_2015_759_MOESM2_ESM.pdf

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A07L-01A.domain

Genome-wide detection of allelic gene expression in hepatocellular carcinoma cells using a human exome SNP chip.

Park YM et al.

Gene, 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."