Varaico: Literature-Extracted Genetic Variants

Gene:LDHD
Variant:p.R347W
Back to variants list

LDHD

NM_194436.3:p.R347W

Associated Papers

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

Sloth TB et al.

Jimd Reports, 2025

Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene.

Bardin T et al.

Rheumatology (oxford, England), 2023

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."