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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| 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 |