Varaico: Literature-Extracted Genetic Variants

Gene:LDHA
Variant:p.I242V
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LDHA

NM_005566.4:p.I242V

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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