Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.T459fs
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NPRL3

NM_001077350.3:p.T459fs

Associated Papers

Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.

Coleman M et al.

Neurology. Genetics, 2024

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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."