Varaico: Literature-Extracted Genetic Variants

Gene:DMBT1
Variant:p.Y309delFs
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DMBT1

NM_001377530.1:p.Y309delFs

Associated Papers

Advancements and future directions in Oguchi disease research.

Fan F et al.

International Ophthalmology, 2025

Oguchi's disease: two cases and literature review.

Dai Y et al.

The Journal of International Medical Research, 2021

Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease.

Kato Y et al.

Investigative Ophthalmology & Visual Science, 2015

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

Katagiri S et al.

Plos One, 2014

A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.

Huang L et al.

Molecular Vision, 2012

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.

Waheed NK et al.

Molecular Vision, 2012

Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease.

Saga M et al.

Japanese Journal of Ophthalmology, 0

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