Literature record
Gonadal 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 · View on PubMed ↗
Source-grounded extraction
Validated evidence
| 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 |