Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
| Autor: | Pelin, Katarina, Sagath, Lydia, Lehtonen, Johanna, Kiiski, Kirsi, Tynninen, Olli, Paetau, Anders, Johari, Mridul, Savarese, Marco, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta |
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| Zdroj: | Journal of Neuromuscular Diseases; 2023, Vol. 10 Issue 5, p977-984, 8p |
| Databáze: | Complementary Index |
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