NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

There is no clearly established association between the gene NUP188 and human pathology. Only a few reports of patients with different clinical presentation and different heterozygous or compound heterozygous missense or splice region variants have been identified in several sequencing projects; how...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Syndromol
Hauptverfasser: Sandestig, Anna, Engström, Karolina, Pepler, Alexander, Danielsson, Ingela, Odelberg-Johnsson, Per, Biskup, Saskia, Holz, Anja, Stefanova, Margarita
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2020
Schlagworte:
Novel Insights from Clinical Practice
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6995945/
https://ncbi.nlm.nih.gov/pubmed/32021605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000504818
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