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P237: A de novo gain-of-function ANO5 variant in a patient with anoctaminopathy5-related muscular dystrophy challenges the skeletal/muscular phenotype dichotomy into question
oleh: Reynold Ly, Kayla Treat, Brett Graham, Erin Conboy, Anna Boccaccio, Francesco Vetrini
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2023-01-01 |
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