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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Detaylı Bibliyografya
Asıl Yazarlar:	Asia Parveen, Muhammad U. Mirza, Michiel Vanmeert, Javed Akhtar, Hina Bashir, Saadullah Khan, Saqib Shehzad, Matheus Froeyen, Wasim Ahmed, Muhammad Ansar, Naveed Wasif
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	Wiley 2019-09-01
Seri Bilgileri:	Molecular Genetics & Genomic Medicine
Konular:	CBS domain CNNM4 Jalili Syndrome MD Simulations missense variant
Online Erişim:	https://doi.org/10.1002/mgg3.902
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A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations

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