Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.S125_P126insFs
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CLN3

NM_001042432.2:p.S125_P126insFs

Associated Papers

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

Sarpong A et al.

Clinical Genetics, 2009

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

Mole SE et al.

Human Mutation, 1999

Spectrum of mutations in the Batten disease gene, CLN3.

Munroe PB et al.

American Journal of Human Genetics, 1997

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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."