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Mol Genet Metab Rep. 2017 Jan 16;10:81-82. doi: 10.1016/j.ymgmr.2016.12.009. eCollection 2017 Mar.

Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data.

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1
National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 9N248B, Bethesda, MD 20892-1851, United States.

KEYWORDS:

Adenylosuccinate lyase; Hardy-Weinberg equilibrium; Prevalence

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