SRPK3, SRSF protein kinase 3, 26576

N. diseases: 1; N. variants: 0
Disease: Myopathies, Nemaline ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.300 Biomarker disease GENOMICS_ENGLAND Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort. 26799446 2016