Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.E396*
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MERTK

NM_006343.3:p.E396*

Associated Papers

Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Bai Z et al.

Bmc Medical Genomics, 2021

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

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y et al.

Human Genetics, 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."