Decoding genetic complexity in glycogen storage diseases: three novel variants in SLC37A4, GAA, and PHKG2 identified in an Iranian cohort

Key Points

• Three novel genetic variants were identified in genes linked to glycogen storage diseases.
• The study found variants in SLC37A4, GAA, and PHKG2 in a specific cohort from Iran.
• Observational analysis of genetic data revealed complexities in glycogen storage diseases.
• Highlighting the genetic variations supports the need for tailored diagnostic approaches.