Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.I211fs
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PPT1

NM_000310.4:p.I211fs

Associated Papers

Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.

Kulsirichawaroj P et al.

Pediatric Neurology, 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."