Genotype Distribution in 30 Korean Patients with ADSS1 Myopathy

A 5.5 KB Excel file uploaded by Soo-Hyun Kim on April 13, 2026. The dataset describes genotype distribution in a cohort of 30 Korean patients diagnosed with ADSS1 myopathy.

Use Cases

• Analyze genotype frequency patterns based on the described patient cohort
• Study population-specific genetic associations for ADSS1 myopathy based on the Korean patient focus
• Validate or compare genetic findings in ADSS1 myopathy based on the genotype distribution data

Strengths

• Dataset is small (5.5 KB), facilitating quick download and inspection
• Data is openly licensed under CC-BY-4.0 for reuse

Limitations

• Row count is unknown, which may limit suitability assessment
• Column-level documentation is absent; field semantics must be inferred after download
• Description metadata is limited; actual data quality requires manual inspection after download

Provenance

Source

figshare, uploaded by Soo-Hyun Kim

Collection Method

Likely contains clinical or research data collected from patients.

Time Range

null

Freshness

Last updated 2026-04-13 17:24:58; freshness should be verified

Geography

South Korea