Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-022-00691-8.pdf
Reference20 articles.
1. Fell CW, Nagy V (2021) Cellular models and high-throughput screening for genetic causality of intellectual disability. Trends Mol Med 27(3):220–230
2. van Bokhoven H (2011) Genetic and epigenetic networks in intellectual disabilities. Annu Rev Genet 45:81–104
3. Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, Oortveld MA, Kleefstra T, Kramer JM et al (2016) Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules. Am J Hum Genet 98(1):149–164
4. Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF et al (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586(7831):757–762
5. Ropers HH (2008) Genetics of intellectual disability. Curr Opin Genet Dev 18(3):241–250
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