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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
Undiagnosed Diseases Network
- Division of Genetics and Genomic Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- DBBS - Biomedical Informatics and Data Science
- DBBS - Molecular Genetics and Genomics
- Institute of Clinical and Translational Sciences (ICTS)
- Edison Family Center for Genome Sciences & Systems Biology
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- Division of Newborn Medicine
- DBBS - Developmental, Regenerative and Stem Cell Biology
- DBBS - Human and Statistical Genetics
- Center of Regenerative Medicine
- Department of Pediatrics
- Department of Genetics
- Siteman Cancer Center
- Department of Developmental Biology
- Washington University School of Medicine
Research output: Contribution to journal › Article › peer-review
1
Scopus
citations