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Article

Identification of 3'-UTR single nucleotide variants and prediction of select protein imbalance in mesial temporal lobe epilepsy patients.

PloS one - 1 Jan 2021

Chaudhuri Tanusree, Chintalapati Janaki, Hosur Madhusoodan Vijayacharya

Abstract excerpt

The genetic influence in epilepsy, characterized by unprovoked and recurrent seizures, is through variants in genes critical to brain development and function. We have carried out variant calling in Mesial Temporal Lobe Epilepsy (MTLE) patients by mapping the RNA-Seq data available at SRA, NCBI, USA onto human genome assembly hg-19. We have identified 1,75,641 SNVs in patient samples. These SNVs are distributed...

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PMID: 34086756
DOI: 10.1371/journal.pone.0252475
PMCID: PMC8177469

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