Varaico: Literature-Extracted Genetic Variants

Gene:LMBR1
Variant:p.I352delFs
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LMBR1

NM_022458.4:p.I352delFs

Associated Papers

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.

Farwell Gonzalez KD et al.

Jimd Reports, 2015

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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."