A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations

Abstract Background Jalili syndrome (JS) is a rare cone‐rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by Jalili and Smith. Pathogenic mutations in the Cyclin and CBS Domain Divalent Metal Cation Transport Mediat...

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Bibliographic Details

Main Authors:	Asia Parveen, Muhammad U. Mirza, Michiel Vanmeert, Javed Akhtar, Hina Bashir, Saadullah Khan, Saqib Shehzad, Matheus Froeyen, Wasim Ahmed, Muhammad Ansar, Naveed Wasif
Format:	Artigo
Language:	Inglês
Published:	Wiley 2019-09-01
Series:	Molecular Genetics & Genomic Medicine
Subjects:	CBS domain CNNM4 Jalili Syndrome MD Simulations missense variant
Online Access:	https://doi.org/10.1002/mgg3.902
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