Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.W130*
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MERTK

NM_006343.3:p.W130*

Associated Papers

STmut: a framework for visualizing somatic alterations in spatial transcriptomics data of cancer.

Chen L et al.

Genome Biology, 2023

38037084 (PubMed )
Supplement: 13059_2023_3121_MOESM1_ESM.xlsx › Sheet1

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

Tayebi N et al.

Molecular Vision, 2019

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

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

Ge Z et al.

Scientific Reports, 2015

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang F 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."