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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSTPIP2

Variant:p.E214_A215Splc

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PSTPIP2

NM_024430.4:p.E214_A215Splc

hg38:chr18:45997748 C>A

Associated Papers

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

41463395 (PubMed )

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