Genomics Combined with a Protein Informatics Platform to Assess a Novel Pathogenic Variant C.1024 A>G (p.k342e) in OPA1 in a Patient with Autosomal Dominant Optic Atrophy.

Abhimanyu S. Ahuja,Pavalan Selvam,Charitha Vadlamudi, Hayley Chopra,John E. Richter,Sarah K. Macklin,Ayesha Samreen,Haytham Helmi, Ahmed N. Mohammaad,Stephanie Hines, Maria C. Davila,Paldeep S. Atwal,Thomas R. Caulfield

Ophthalmic Genetics（2020）

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关键词

Autosomal Dominant Optic Atrophy (ADOA),Optic Atrophy Gene 1 (OPA1),gene mutation,novel mutation,pathogenicity,variant of uncertain significance,molecular Genetics,protein informatics

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