Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.V390G
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POMGNT1

NM_017739.4:p.V390G

Associated Papers

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 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."