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

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, wh...

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Detalles Bibliográficos
Autores principales: Leníček, Martin, Šmíd, Václav, Pajer, Petr, Nazarova, Anna, Dvořák, Karel, Subhanová, Iva, Brůha, Radan, Vítek, Libor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536765/
https://www.ncbi.nlm.nih.gov/pubmed/34686753
http://dx.doi.org/10.1038/s41598-021-00425-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536765/
https://www.ncbi.nlm.nih.gov/pubmed/34686753
http://dx.doi.org/10.1038/s41598-021-00425-0

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