eP092: Germline mosaicism in severe BICD2-associated lower extremity-predominant spinal muscular atrophy type 2 with arthrogryposis multiplex congenita
Autor: | Cassady, Jennifer, Subramaniam, Akila, Bowling, Kevin, Hurst, Anna |
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Zdroj: | In Genetics in Medicine March 2022 24(3) Supplement:S60-S61 |
Databáze: | ScienceDirect |
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