Varaico: Literature-Extracted Genetic Variants

Gene:LDHD
Variant:p.T440M
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LDHD

NM_194436.3:p.T440M

Associated Papers

Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy.

Sloth TB et al.

Jimd Reports, 2025

Lactate dehydrogenase D is a general dehydrogenase for D-2-hydroxyacids and is associated with D-lactic acidosis.

Jin S et al.

Nature Communications, 2023

Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.

Kwong AK et al.

Jimd Reports, 2021

Identification of human D lactate dehydrogenase deficiency.

Monroe GR et al.

Nature Communications, 2019

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5
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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."