Varaico: Literature-Extracted Genetic Variants

Gene:LMBRD1
Variant:p.D469delFs
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LMBRD1

NM_018368.4:p.D469delFs

Associated Papers

Concept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.

Joslin AC et al.

Genes & Nutrition, 2014

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.

Gailus S et al.

Journal of Inherited Metabolic Disease, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."