Varaico: Literature-Extracted Genetic Variants

Gene:MTR
Variant:p.G1003Splc
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MTR

NM_000254.3:p.G1003Splc

Associated Papers

Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysis.

Watkins D et al.

Molecular Genetics and Metabolism, 2025

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Brasil S et al.

Orphanet Journal of Rare Diseases, 2018

Kidney-Limited Microangiopathy Associated with Methionine Synthase (Cobalamin G) Deficiency in a Pediatric Patient: Case Report and Review of the Literature.

Zuckerman JE et al.

Glomerular Diseases, 0

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