Novel HIVEP2 Variants in Patients with Intellectual Disability

Intellectual disability (ID) occurs in approximately 1% of the population. Over the last years, broad sequencing approaches such as whole exome sequencing (WES) substantially contributed to the definition of the molecular defects underlying nonsyndromic ID. Pathogenic variants in HIVEP2, which encod...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Syndromol
Hauptverfasser: Park, Joohyun, Colombo, Roberto, Schäferhoff, Karin, Janiri, Luigi, Grimmel, Mona, Sturm, Marc, Grasshoff, Ute, Dufke, Andreas, Haack, Tobias B., Kehrer, Martin
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2019
Schlagworte:
Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6738162/
https://ncbi.nlm.nih.gov/pubmed/31602191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000499060
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