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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Brief Reports
Online adgang: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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