Varaico: Literature-Extracted Genetic Variants

Gene:DMBT1
Variant:p.W147L
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DMBT1

NM_001377530.1:p.W147L

Associated Papers

Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.

Pennesi ME et al.

American Journal of Ophthalmology, 2026

Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese.

Quinodoz M et al.

Journal of Medical Genetics, 2025

Advancements and future directions in Oguchi disease research.

Fan F et al.

International Ophthalmology, 2025

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.

Villafuerte-de la Cruz RA et al.

Bmc Ophthalmology, 2024

Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.

Pilotto E et al.

European Journal of Ophthalmology, 2022

Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.

Pappalardo J et al.

Ophthalmic Genetics, 2021

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.

Sullivan LS et al.

Investigative Ophthalmology & Visual Science, 2017

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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."