Associated Papers
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Smith ED et al.
Human Mutation, 2017
28106320 (PubMed )
Supplement: HUMU-38-600-s001.pdf
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Hwang DY et al.
Kidney International, 2014
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