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ACTA1 and congenital myopathy are reported together in 1 article.
Gene
ACTA1
- HGNC
- HGNC:129
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Congenital myopathy
134articles
134mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.
PMID 27242277 | DOI 10.1002/ajmg.a.37768 · American journal of medical genetics. Part A · 2016 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ACTA1 | “Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.” | 0.93 | phenotype_alias_lexicon_v2 |