Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.S161L
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CLN3

NM_001042432.2:p.S161L

Associated Papers

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Biswas P et al.

Plos Genetics, 2021

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.

Mizobuchi K et al.

Molecular Genetics & Genomic Medicine, 2020

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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."