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bibliographicCitation Collison FT, Xie Y(, Gambin T, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Fishman GA, Allikmets R. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy. Ophthalmic Genetics. 2015 Feb 17;36(3):270–5. doi: 10.3109/13816810.2015.1010736.
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date 2015-02-17-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://pubmed.ncbi.nlm.nih.gov/25687216
https://pubmed.ncbi.nlm.nih.gov/PMC4539287
https://doi.org/10.3109/13816810.2015.1010736
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language English
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title 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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