Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.H74_V75Splc
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CLN3

NM_001042432.2:p.H74_V75Splc

Associated Papers

The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample.

Wibbeler E et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2022

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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."