A novel recurrent ARL3 variant c.209G &gt; A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Human molecular genetics, Mar 2025

DOI: 10.1093/hmg/ddaf029

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Corral-Serrano, Julio C ; Vaclavik, Veronika ; Van de Sompele, Stijn ; Kaminska, Karolina ; Jovanovic, Katarina ; Escher, Pascal ; Van den Broeck, Filip ; Cancellieri, Francesca ; Toulis, Vasileios ; Leroy, Bart P ; de Zaeytijd, Julie ; You, Zhixuan ; Ottaviani, Daniele ; Quinodoz, Mathieu ; Bordeanu, Gabriela ; Hardcastle, Alison J ; Coppieters, Frauke ; Tran, Viet H ; Cheetham, Michael E ; Rivolta, Carlo ; De Baere, Elfride

Genes

Oligo Pools

NGS Target Enrichment Solutions

Variant Libraries

Synthetic Controls

Antibody Discovery

A novel recurrent ARL3 variant c.209G &gt; A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

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A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models