Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.R148C
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EFEMP1

NM_001039348.3:p.R148C

Associated Papers

A review of the role of EFEMP1 in ophthalmic disease.

Wood AJ et al.

Ophthalmic Genetics, 2025

A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.

Bozkurt B et al.

Ophthalmic Genetics, 2024

Stop codon variant in EFEMP1 is associated with primary open-angle glaucoma due to impaired regulation of aqueous humor outflow.

Tan J et al.

Experimental Eye Research, 2024

Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome.

Gupta V et al.

Ophthalmic Genetics, 2023

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s003.xlsx › MSS
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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."