Varaico: Literature-Extracted Genetic Variants

Gene:MTRR
Variant:p.L179L
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MTRR

NM_002454.3:p.L179L

Associated Papers

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_

Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.

Liu X et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

O'Leary VB et al.

Molecular Genetics and Metabolism, 2005

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

Suormala T et al.

The Journal of Biological Chemistry, 2004

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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."