Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.H721Q
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MERTK

NM_006343.3:p.H721Q

Associated Papers

MERTK missense variants in three patients with retinitis pigmentosa.

Poli FE et al.

Ophthalmic Genetics, 2023

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Maltese PE et al.

Frontiers in Genetics, 2022

35836572 (PubMed )
Supplement: Table1.xlsx › Table_S4_Europe

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S4_AR

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."