Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.A446fs
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MERTK

NM_006343.3:p.A446fs

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_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

MERTK mutation update in inherited retinal diseases.

Audo I et al.

Human Mutation, 2018

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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."