Associated Papers
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
Hirschhorn R et al.
American Journal of Human Genetics, 1994
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