methylmalonic aciduria and homocystinuria type ...

Name
methylmalonic aciduria and homocystinuria type cblD
Ontological Reference
MONDO:0010185
ClinVar Variants
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External Resources
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Curated by Classification Date Report
Dosagesensitivity on Gene Dosage Sensitivity Gene Associated with Autosomal Recessive Phenotype 05/31/2017 View report
Clinicalactionability on Clinical Actionability View report for scoring details 03/21/2018 View report