SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
Disease: Inherited neuropathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker disease GENOMICS_ENGLAND A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. 28333917 2017