Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.W279delFs
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CLN6

NM_017882.3:p.W279delFs

Associated Papers

Freezing of gait--first motor manifestation in late infantile variant neuronal ceroid lipofuscinosis.

Damásio J et al.

Parkinsonism & Related Disorders, 2014

Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology.

Teixeira CA et al.

Biochimica Et Biophysica Acta, 2006

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

Sharp JD et al.

Human Mutation, 2003

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

Teixeira CA et al.

Human Mutation, 2003

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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."