Varaico: Literature-Extracted Genetic Variants

Gene:MMADHC
Variant:p.L259P
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MMADHC

NM_015702.3:p.L259P

Associated Papers

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2

Cobalt-Sulfur Coordination Chemistry Drives B12 Loading onto Methionine Synthase.

Mascarenhas R et al.

Journal of the American Chemical Society, 2023

Cobalt-sulfur coordination chemistry drives B 12 loading onto methionine synthase.

Mascarenhas R et al.

Biorxiv : the Preprint Server for Biology, 2023

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Huang X et al.

Orphanet Journal of Rare Diseases, 2022

35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign

An Interprotein Co-S Coordination Complex in the B12-Trafficking Pathway.

Li Z et al.

Journal of the American Chemical Society, 2020

Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.

Yamada K et al.

The Journal of Biological Chemistry, 2015

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

Froese DS et al.

The Journal of Biological Chemistry, 2015

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Characterization of functional domains of the cblD (MMADHC) gene product.

Jusufi J et al.

Journal of Inherited Metabolic Disease, 2014

Gene identification for the cblD defect of vitamin B12 metabolism.

Coelho D et al.

The New England Journal of Medicine, 2008

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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."