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Title:          Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
Subject:        Orphanet Journal of Rare Diseases, 2018, doi:10.1186/s13023-018-0862-y
Keywords:       Cobalamin disorders,Methylmalonic aciduria,Homocystinuria,Massive parallel sequencing
Author:         Sandra Brasil
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        Title: Background
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        Title: Results
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        Title: Patients
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        Title: Genetic analysis
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        Title: Assessment of variant pathogenicity
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        Title: Functional prediction
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        Title: Genetic analysis
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        Title: Functional analysis of the MUT splicing mutation c.1084-10A⁜琀㸠䜩⽄敳琨sectionSec9
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        Title: Functional analysis of SUCLA2 defects in patient-derived fibroblasts
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       Item: 
        Title: In silico estimates of the functional impact of missense variants
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      Title: Discussion
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      Title: Conclusions
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      Title: Additional files
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      Title: Abbreviations
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      Title: Acknowledgements
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      Title: References
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   Info: 
    Title: Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
    Author: Sandra Brasil
    Subject: Orphanet Journal of Rare Diseases, 2018, doi:10.1186/s13023-018-0862-y
    Keywords: Cobalamin disorders,Methylmalonic aciduria,Homocystinuria,Massive parallel sequencing
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