The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted

INTRODUCTION: 5' splice site GT>GC or +2T>C variants have been frequently reported to cause human genetic disease and are routinely scored as pathogenic splicing mutations. However, we have recently demonstrated that such variants in human disease genes may not invariably be pathogenic. M...

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Detalles Bibliográficos
Autores principales: Chen, Jian-Min, Lin, Jin-Huan, Masson, Emmanuelle, Liao, Zhuan, Férec, Claude, Cooper, David N., Hayden, Matthew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324893/
https://www.ncbi.nlm.nih.gov/pubmed/32655299
http://dx.doi.org/10.2174/1389202921666200210141701

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324893/
https://www.ncbi.nlm.nih.gov/pubmed/32655299
http://dx.doi.org/10.2174/1389202921666200210141701

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