SPG7 Gene Variants in ALS Patients and Controls

11.5 KB of genetic data lists potentially pathogenic variants in the SPG7 gene identified in individuals with Amyotrophic Lateral Sclerosis (ALS) and control subjects. The dataset was authored by Mehrdad A. Estiar and is available under a CC-BY-4.0 license. It was last updated on May 1, 2026.

Use Cases

• Assessing variant pathogenicity based on the list of identified SPG7 variants.
• Comparing genetic profiles between ALS patients and control groups as described in the source study.
• Investigating digenic inheritance models involving SPG7 and AFG3L2 mutations mentioned in the title.

Strengths

• Dataset is small (11.5 KB), facilitating quick download and inspection.
• License is permissive (CC-BY-4.0), allowing for broad 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

Collection Method

Likely generated from genetic sequencing studies of ALS patients and controls.

Freshness

Last updated 2026-05-01 04:44:19; freshness should be verified.