Associated Papers
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Truty R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
29895855 (PubMed )
Supplement: 41436_2018_33_MOESM4_ESM.xlsx › Table_S1
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K et al.
Human Mutation, 2009
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