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
Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production.
Banning A et al.
International Journal of Molecular Sciences, 2017
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
Saarela J et al.
Human Molecular Genetics, 2001
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