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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6492103/
https://ncbi.nlm.nih.gov/pubmed/30556619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23699
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