Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.R732*
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MERTK

NM_006343.3:p.R732*

Associated Papers

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Ullah M et al.

Npj Genomic Medicine, 2025

40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1

Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.

Marwan M et al.

Bmc Ophthalmology, 2023

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

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

MERTK mutation update in inherited retinal diseases.

Audo I et al.

Human Mutation, 2018

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

O'Sullivan J et al.

Journal of Medical Genetics, 2012

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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."