Varaico: Literature-Extracted Genetic Variants

Gene:MTR
Variant:p.P148L
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MTR

NM_000254.3:p.P148L

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

Endometrioid endometrial cancer "recurring" as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?

Jiang W et al.

Hereditary Cancer in Clinical Practice, 2019

31139268 (PubMed )
Supplement: 13053_2019_112_MOESM1_ESM.xlsx › gxj-s1-blood

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

Acquaviva C et al.

Human Mutation, 2005

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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."