Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.Y754*
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MERTK

NM_006343.3:p.Y754*

Associated Papers

CLINICAL FEATURES OF MERTK -RELATED RETINOPATHY.

Khan AO

Retina (philadelphia, Pa.), 2026

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

The genetics of rod-cone dystrophy in Arab countries: a systematic review.

Jaffal L et al.

European Journal of Human Genetics : Ejhg, 2021

KinaseMD: kinase mutations and drug response database.

Hu R et al.

Nucleic Acids Research, 2021

33137204 (PubMed )
Supplement: gkaa945_supplemental_files.zip › Supplementary_Table_S3.xlsx › Sheet1

MERTK mutation update in inherited retinal diseases.

Audo I et al.

Human Mutation, 2018

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."