Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.E81_E82Splc
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PTS

NM_000317.3:p.E81_E82Splc

Associated Papers

Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases.

Chen S et al.

Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2024

Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.

Martínez-Pizarro A et al.

Nucleic Acid Therapeutics, 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."