Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
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Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y.
Orphanet J Rare Dis. 2018.
PMID: 30041674
Free PMC article.