Varaico: Literature-Extracted Genetic Variants

Gene:PGAM2
Variant:p.A69T
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PGAM2

NM_000290.4:p.A69T

Associated Papers

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.

Luan Y et al.

Heliyon, 2025

39959475 (PubMed )
Supplement: mmc2.xlsx › Patient2-snvs
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