Varaico: Literature-Extracted Genetic Variants

Gene:MTRR
Variant:p.W147*
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MTRR

NM_002454.3:p.W147*

Associated Papers

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

Esser AJ et al.

Iscience, 2022

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Brooks BP et al.

Ophthalmology, 2016

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Morel CF et al.

Molecular Genetics and Metabolism, 2006

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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."