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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated...
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I publikationen: | Am J Hum Genet |
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Huvudupphovsmän: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Materialtyp: | Artigo |
Språk: | Inglês |
Publicerad: |
Elsevier
2016
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Ämnen: | |
Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5065681/ https://ncbi.nlm.nih.gov/pubmed/27693232 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.08.017 |
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