Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.L12P
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MERTK

NM_006343.3:p.L12P

Associated Papers

MERTK mutation update in inherited retinal diseases.

Audo I et al.

Human Mutation, 2018

A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.

Jinda W et al.

Molecular Vision, 2016

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.

Brea-Fernández AJ et al.

The British Journal of Ophthalmology, 2008

Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa.

Tada A et al.

Molecular Vision, 2006

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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."