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

INTRODUCTION: Intellectual 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. METHODS: The current genetic study ascertained two consanguineous Pakistani families sufferi...

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Detalles Bibliográficos
Autores principales: Muhammad, Nazif, Hussain, Syeda Iqra, Rehman, Zia Ur, Khan, Sher Alam, Jan, Samin, Khan, Niamatullah, Muzammal, Muhammad, Abbasi, Sumra Wajid, Kakar, Naseebullah, Khan, Muzammil Ahmad, Mirza, Muhammad Usman, Muhammad, Noor, Khan, Saadullah, Wasif, Naveed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10249782/
https://www.ncbi.nlm.nih.gov/pubmed/37305761
http://dx.doi.org/10.3389/fneur.2023.1168307

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