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The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability

Genetic or genomic mutation is a major cause of intellectual disability (ID). However, despite the generally anticipated strong genotype/phenotype correlation for ID, there are huge obstacles to gene identification, except perhaps where very distinct syndromic features are observed, because of the h...

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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Perspect Med
Asıl Yazarlar: Harripaul, Ricardo, Noor, Abdul, Ayub, Muhammad, Vincent, John B.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2017
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5334248/
https://ncbi.nlm.nih.gov/pubmed/28250017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a026864
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