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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPP2

Variant:p.K638Splc

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TPP2

NM_001330588.2:p.K638Splc

hg38:chr13:102638320 G>A

Associated Papers

Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype.

Stockdale C et al.

Journal of Clinical Immunology, 2021

33682069 (PubMed )

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