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Article

Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.

Disease markers - 1 Jan 2022

Perfilyeva Anastassiya, Bespalova Kira, Perfilyeva Yuliya, Skvortsova Liliya, Musralina Lyazzat, Zhunussova Gulnur, Khussainova Elmira, Iskakova Ulzhan, Bekmanov Bakhytzhan, Djansugurova Leyla

Abstract excerpt

The study of extended pedigrees containing autism spectrum disorder- (ASD-) related broader autism phenotypes (BAP) offers a promising approach to the search for ASD candidate variants. Here, a total of 650,000 genetic markers were tested in four Kazakhstani multiplex families with ASD and BAP to obtain data on de novo mutations (DNMs), common, and rare inherited variants that may contribute to the genetic risk...

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Identifiers

PMID: 36199823
DOI: 10.1155/2022/1509994
PMCID: PMC9529466

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