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

<div><p>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 mut...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Afif Ben-Mahmoud (13913550) (author)
مؤلفون آخرون: Kyung Ran Jun (11630248) (author), Vijay Gupta (209146) (author), Pinang Shastri (13913553) (author), Alberto de la Fuente (360936) (author), Yongsoo Park (761850) (author), Kyung Chul Shin (13913556) (author), Chong Ae Kim (7503338) (author), Aparecido Divino da Cruz (9569256) (author), Irene Plaza Pinto (9569241) (author), Lysa Bernardes Minasi (12368821) (author), Alex Silva da Cruz (18300820) (author), Laurence Faivre (397333) (author), Patrick Callier (397343) (author), Caroline Racine (11233485) (author), Lawrence C. Layman (13913559) (author), Il-Keun Kong (85884) (author), Cheol-Hee Kim (36752) (author), Woo-Yang Kim (206701) (author), Hyung-Goo Kim (728597) (author)
منشور في: 2022
الموضوعات:
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