Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.C243R
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GALK1

NM_000154.2:p.C243R

Associated Papers

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."