Varaico: Literature-Extracted Genetic Variants

Gene:LMBRD1
Variant:p.L352fs
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LMBRD1

NM_018368.4:p.L352fs

Associated Papers

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.

Constantinou P et al.

Molecular Syndromology, 2016

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.

Tanner SM et al.

Orphanet Journal of Rare Diseases, 2012

22929189 (PubMed )
Supplement: 1750-1172-7-56-S1.xls › Supplementary_Table_1

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

Rutsch F et al.

Nature Genetics, 2009

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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."