Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.

Autor: de Feraudy, Yvan1,2,3 (AUTHOR), Vandroux, Marie1 (AUTHOR), Romero, Norma Beatriz4 (AUTHOR), Schneider, Raphaël1 (AUTHOR), Saker, Safaa5 (AUTHOR), Boland, Anne6 (AUTHOR), Deleuze, Jean-François6 (AUTHOR), Biancalana, Valérie1,7 (AUTHOR), Böhm, Johann1 (AUTHOR), Laporte, Jocelyn1 (AUTHOR) jocelyn@igbmc.fr
Zdroj: Genome Medicine. 7/9/2024, Vol. 16 Issue 1, p1-15. 15p.
Databáze: Academic Search Ultimate
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