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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSAP

Variant:p.T214delFs

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PSAP

NM_002778.4:p.T214delFs

hg38:chr10:71828091 TG>T

Associated Papers

Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency.

Marquardsen FA et al.

Journal of Clinical Immunology, 2017

28825155 (PubMed )

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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."