Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.K746R
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MERTK

NM_006343.3:p.K746R

Associated Papers

Widefield Swept Source OCTA in Retinitis Pigmentosa.

Mastropasqua R et al.

Diagnostics (basel, Switzerland), 2020

MERTK mutation update in inherited retinal diseases.

Audo I et al.

Human Mutation, 2018

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

Coppieters F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration.

Maddox DM et al.

Investigative Ophthalmology & Visual Science, 2011

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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."