Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.R844P
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MERTK

NM_006343.3:p.R844P

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

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

Collin RW 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."