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SET de novo frameshift variants associated with developmental delay and intellectual disabilities

Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the SET gene have not previously been recognised to b...

詳細記述

保存先:
書誌詳細
出版年:Eur J Hum Genet
主要な著者: Richardson, Ruth, Splitt, Miranda, Newbury-Ecob, Ruth, Hulbert, Alice, Kennedy, Joanna, Weber, Astrid
フォーマット: Artigo
言語:Inglês
出版事項: Springer International Publishing 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6117329/
https://ncbi.nlm.nih.gov/pubmed/29907757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0199-y
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