Associated Papers
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT et al.
Hgg Advances, 2024
38566418 (PubMed )
Supplement: mmc1.pdf
Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report.
Li N et al.
World Journal of Clinical Cases, 2019
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