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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Principais autores:	Asia Parveen, Muhammad U. Mirza, Michiel Vanmeert, Javed Akhtar, Hina Bashir, Saadullah Khan, Saqib Shehzad, Matheus Froeyen, Wasim Ahmed, Muhammad Ansar, Naveed Wasif
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2019-09-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	CBS domain CNNM4 Jalili Syndrome MD Simulations missense variant
Acesso em linha:	https://doi.org/10.1002/mgg3.902
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