Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.A349_L350del0
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CLN3

NM_001042432.2:p.A349_L350del0

Associated Papers

Timing of cognitive decline in CLN3 disease.

Kuper WFE et al.

Journal of Inherited Metabolic Disease, 2018

29392585 (PubMed )
Supplement: 10545_2018_143_MOESM1_ESM.docx

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.

Licchetta L et al.

European Journal of Medical Genetics, 2015

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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."