Common CPA6 variants in JME patients.
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The common CPA6 variants are rs10957393 (c.133 T>C, p.Phe45Leu); rs17853192 (c.518 C>G, p.Ser173Cys); and rs17343819 (c.746 A>G, p.Asn249Ser). All of these have a minor allele frequency ≥0.08. None of these are more frequently observed in the JME patients, compared to the control group in our analysis. (PDF)
创建时间：
2015-12-03
