Varaico: Literature-Extracted Genetic Variants

Gene:CYP51A1
Variant:p.W421*
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CYP51A1

NM_000786.4:p.W421*

Associated Papers

Evaluation of Selected CYP51A1 Polymorphisms in View of Interactions with Substrate and Redox Partner.

Režen T et al.

Frontiers in Pharmacology, 2017

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.

Musleh M et al.

Eye (london, England), 2016

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.

Gillespie RL et al.

Ophthalmology, 2016

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Gillespie RL et al.

Ophthalmology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."