Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.A341T
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PLEK

NM_002664.3:p.A341T

Associated Papers

Long-Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II.

Hao N et al.

Journal of Inherited Metabolic Disease, 2025

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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."