Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.E295G
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CLN3

NM_001042432.2:p.E295G

Associated Papers

Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes.

Zhang X et al.

Molecular Vision, 2024

Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.

Kolesnikova M et al.

Investigative Ophthalmology & Visual Science, 2023

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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."