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: mmc2.xlsx › Sheet1
NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree.
Li L et al.
Journal of Ovarian Research, 2020
32312275 (PubMed )
Supplement: 13048_2020_645_MOESM4_ESM.xlsx › Supp_Table_1
A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure.
Shen Y et al.
Frontiers in Pediatrics, 2020
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