Title : SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Pub. Date : 2022 Mar 18

PMID : 35328090






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines. acmg-amp superoxide dismutase 1 Homo sapiens
2 In this study, we re-evaluated the classification of all previously reported SOD1 variants (n = 202) from ALSoD, project MinE, and in-house databases by applying the ACMG-AMP criteria to ALS. acmg-amp superoxide dismutase 1 Homo sapiens