Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.L106insFs
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CLN3

NM_001042432.2:p.L106insFs

Associated Papers

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD et al.

Human Mutation, 2003

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

Wheeler RB et al.

American Journal of Human Genetics, 2002

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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."