Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.V289F
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CLN3

NM_001042432.2:p.V289F

Associated Papers

Batten disease: evaluation of CLN3 mutations on protein localization and function.

Haskell RE et al.

Human Molecular Genetics, 2000

Investigation of Batten disease with the yeast Saccharomyces cerevisiae.

Pearce DA et al.

Molecular Genetics and Metabolism, 1999

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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."