Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.C115G
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MERTK

NM_006343.3:p.C115G

Associated Papers

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

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.

Brea-Fernández AJ et al.

The British Journal of Ophthalmology, 2008

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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."