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Article

Clinically silent LINE 1 insertion in the PNPLA3 gene may impede genotyping of the p.I148M variant.

Scientific reports - 22 Oct 2021

Leníček Martin, Šmíd Václav, Pajer Petr, Nazarova Anna, Dvořák Karel, Subhanová Iva, Brůha Radan, Vítek Libor

Abstract excerpt

The patatin-like phospholipase domain containing 3 (PNPLA3) gene (viz. its I148M variant) is one of the key players in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). We have identified a novel insertion/deletion variant of 1114 bp, localized in the second intron of the PNPLA3 gene, which corresponds to the 3' terminal sequence of the long-interspersed element (LINE-1). DNA analysis of 122 NAFLD...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Phospholipases A2, Calcium-Independent

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Identifiers

PMID: 34686753
DOI: 10.1038/s41598-021-00425-0
PMCID: PMC8536765

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