Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

IntroductionIntellectual disability (ID) is a clinically and genetically heterogeneous disorder. It drastically affects the learning capabilities of patients and eventually reduces their IQ level below 70.MethodsThe current genetic study ascertained two consanguineous Pakistani families suffering fr...

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Bibliographic Details
Main Authors: Nazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, Sher Alam Khan, Samin Jan, Niamatullah Khan, Muhammad Muzammal, Sumra Wajid Abbasi, Naseebullah Kakar, Muzammil Ahmad Khan, Muhammad Usman Mirza, Noor Muhammad, Saadullah Khan, Naveed Wasif
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Neurology
Subjects:
consanguinity
NSUN2 gene
intellectual disability
novel variants
molecular dynamics simulation
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1168307/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1168307/full

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