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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTS

Variant:p.R25_L26ins0

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PTS

NM_000317.3:p.R25_L26ins0

hg38:chr11:112226516 C>CGAT

Associated Papers

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

36833190 (PubMed )

Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › PTS_Short_Var_Pathogenetic

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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."