Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features - Archive ouverte HAL
Poster De Conférence Année : 2023

Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

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hal-04086227 , version 1 (01-05-2023)

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  • HAL Id : hal-04086227 , version 1

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Jonathan De Winter, Liedewei van De Vondel, Gisèle Bonne, Tanya Stojkovic, Sahar Elouej, et al.. Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features. Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic. ⟨hal-04086227⟩
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