Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.R727*
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MERTK

NM_006343.3:p.R727*

Associated Papers

Molecular profiling of TAM tyrosine kinase receptors and ligands in endometrial carcinoma: An in silico-study.

Dilara Fatma Akin et al.

Taiwanese Journal of Obstetrics & Gynecology, 2023

Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.

Onishi S et al.

Bmc Medical Genomics, 2023

36647049 (PubMed )
Supplement: 12920_2022_1403_MOESM1_ESM.xlsx › Sheet1

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

Mutations in MERTK are not associated with age-related macular degeneration.

Al-Khersan H et al.

International Ophthalmology, 2019

MERTK mutation update in inherited retinal diseases.

Audo I et al.

Human Mutation, 2018

A novel MERTK mutation causing retinitis pigmentosa.

Al-Khersan H et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2017

First steps in exploring prospective exome sequencing of consanguineous couples.

Teeuw M et al.

European Journal of Medical Genetics, 0

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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."