Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.R844H
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MERTK

NM_006343.3:p.R844H

Associated Papers

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Zenteno JC et al.

Molecular Genetics & Genomic Medicine, 2020

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.

Møller LB et al.

Human Mutation, 2005

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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."