Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.C435W
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CLN3

NM_001042432.2:p.C435W

Associated Papers

Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G.

Garza-Garza LA et al.

Ophthalmic Genetics, 2024

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

Villafuerte-de la Cruz RA et al.

Bmc Ophthalmology, 2024

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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."