The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

BACKGROUND: Familial hypercholesterolaemia (OMIM 143890) is most frequently caused by variations in the low-density lipoprotein receptor (LDLR) gene. Predicting whether novel variants are pathogenic may not be straightforward, especially for missense and synonymous variants. In 2013, the Association...

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Detalles Bibliográficos
Autores principales: Leigh, Sarah, Futema, Marta, Whittall, Ros, Taylor-Beadling, Alison, Williams, Maggie, den Dunnen, Johan T, Humphries, Steve E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502305/
https://www.ncbi.nlm.nih.gov/pubmed/27821657
http://dx.doi.org/10.1136/jmedgenet-2016-104054

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