Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy
Titel:
Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy
Auteur:
Müller, Juliane S. Rabinowicz, Shira Zaharieva, Irina Pini, Veronica Yépez, Vicente A. Esteve-Codina, Anna Chambers, Darren Dawson, Andrew Perry, Luke Herron, Brian Healy, Estelle Tirupathi, Sandya Töpf, Ana DiTroia, Stephanie Phadke, Rahul Muntoni, Francesco Sarkozy, Anna