Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy
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| Description | scientific article |
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author: Frederick T Collison Yajing Angela Xie Richard A Gibbs Shalini Jhangiani Tomasz Gambin James R. Lupski Donna Muzny |
| Publication date | February 17, 2015 |
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