Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.A169delFs
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PPT1

NM_000310.4:p.A169delFs

Associated Papers

[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].

Pérez-Poyato M S et al.

Revista De Neurologia, 2012

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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."