Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Rapid advances in genomic technologies have facilitated the identification pathogenic variants causing human disease. We report siblings with developmental and epileptic encephalopathy due to a novel, shared heterozygous pathogenic 13 bp duplication in SYNGAP1 (c.435_447dup, p.(L150Vfs*6)) that was...

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Detalles Bibliográficos
Autores principales: Cowley, Mark J, Liu, Yu‐Chi, Oliver, Karen L., Carvill, Gemma, Myers, Candace T., Gayevskiy, Velimir, Delatycki, Martin, Vlaskamp, Danique R.M., Zhu, Ying, Mefford, Heather, Buckley, Michael F., Bahlo, Melanie, Scheffer, Ingrid E., Dinger, Marcel E., Roscioli, Tony
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492103/
https://www.ncbi.nlm.nih.gov/pubmed/30556619
http://dx.doi.org/10.1002/humu.23699

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