Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.A383T
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CYP1B1

NM_000104.4:p.A383T

Associated Papers

Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.

Delibes C et al.

Journal of Translational Medicine, 2024

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.

Al-Saei O et al.

Bmc Genomics, 2024

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

Jackson D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 0

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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."