Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype

BACKGROUND: 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that additional genetic factors are necessary to manifes...

全面介紹

Na minha lista:
書目詳細資料
發表在:Orphanet J Rare Dis
Main Authors: Qaiser, Farah, Yin, Yue, Mervis, Carolyn B., Morris, Colleen A., Klein-Tasman, Bonita P., Tam, Elaine, Osborne, Lucy R., Yuen, Ryan K. C.
格式: Artigo
語言:Inglês
出版: BioMed Central 2021
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7788915/
https://ncbi.nlm.nih.gov/pubmed/33407644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01648-6
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍