A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. These small unbalanced chromosomal structural rearrangements ranging from 1 kb to 10 Mb comprise up to 15% of human mutations leading to mo...

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Detalles Bibliográficos
Autores principales: Ben-Mahmoud, Afif, Jun, Kyung Ran, Gupta, Vijay, Shastri, Pinang, de la Fuente, Alberto, Park, Yongsoo, Shin, Kyung Chul, Kim, Chong Ae, da Cruz, Aparecido Divino, Pinto, Irene Plaza, Minasi, Lysa Bernardes, Silva da Cruz, Alex, Faivre, Laurence, Callier, Patrick, Racine, Caroline, Layman, Lawrence C., Kong, Il-Keun, Kim, Cheol-Hee, Kim, Woo-Yang, Kim, Hyung-Goo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582330/
https://www.ncbi.nlm.nih.gov/pubmed/36277487
http://dx.doi.org/10.3389/fnmol.2022.979061

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