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A5067982854
Research Areas
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findings complex inherited neurodevelopmental disorder 35 individuals associated with NM_024700.4:c.1097A>G, p.(Glu366Gly) variant, present at high frequency Amish community. The cardinal features condition include hypotonia, global developmental delay,...
10.1371/journal.pgen.1009803
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PLoS Genetics
2021-09-27
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